Linked Data
ClinVar Variation Id:
304357
ClinVar RCV Id:
RCV000285944
RCV000301339
RCV000310966
RCV000336368
RCV000337620
RCV000394809
RCV000398566
RCV001514487
RCV001566375
dbSNP Id:
rs145329506
ExAC:
11:31815634 C / T
gnomAD v2:
11-31815634-C-T
gnomAD v3:
11-31794086-C-T
gnomAD v4:
11-31794086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31794086C>T , CM000673.2:g.31794086C>T | GRCh38 |
| NC_000011.9:g.31815634C>T , CM000673.1:g.31815634C>T | GRCh37 |
| NC_000011.8:g.31772210C>T | NCBI36 |
| NG_008679.1:g.28876G>A , LRG_720:g.28876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241001.13:c.711G>A | ENSP00000241001.8:p.Val237= | |
| ENST00000379107.7:c.753G>A | ENSP00000368401.2:p.Val251= | |
| ENST00000379109.7:c.711G>A | ENSP00000368403.2:p.Val237= | |
| ENST00000379111.7:c.711G>A | ENSP00000368406.3:p.Val237= | |
| ENST00000379115.9:c.552G>A | ENSP00000368410.5:p.Val184= | |
| ENST00000379123.10:c.303G>A | ENSP00000368418.6:p.Val101= | |
| ENST00000379129.7:c.753G>A | ENSP00000368424.2:p.Val251= | |
| ENST00000379132.8:c.711G>A | ENSP00000368427.2:p.Val237= | |
| ENST00000419022.6:c.753G>A | ENSP00000404100.1:p.Val251= | |
| ENST00000423822.7:c.552G>A | ENSP00000388132.3:p.Val184= | |
| ENST00000438681.6:c.552G>A | ENSP00000404356.2:p.Val184= | |
| ENST00000464174.6:n.301G>A | ||
| ENST00000470027.7:n.3031G>A | ||
| ENST00000471303.6:n.1648G>A | ||
| ENST00000474783.2:n.1241G>A | ||
| ENST00000481563.6:c.303G>A | ENSP00000492205.1:p.Val101= | |
| ENST00000494377.7:n.1517G>A | ||
| ENST00000524853.6:c.711G>A | ENSP00000431585.2:p.Val237= | |
| ENST00000530373.6:n.321G>A | ||
| ENST00000531910.6:n.1418G>A | ||
| ENST00000606377.7:c.753G>A | ENSP00000480026.1:p.Val251= | |
| ENST00000638250.1:c.303G>A | ENSP00000491365.1:p.Val101= | |
| ENST00000638346.1:c.303G>A | ENSP00000491267.1:p.Val101= | |
| ENST00000638629.1:c.303G>A | ENSP00000490971.1:p.Val101= | |
| ENST00000638685.1:c.198G>A | ENSP00000492316.1:p.Val66= | |
| ENST00000638696.1:c.645G>A | ENSP00000492756.1:p.Val215= | |
| ENST00000638755.1:c.603G>A | ENSP00000492181.1:p.Val201= | |
| ENST00000638762.1:c.303G>A | ENSP00000491517.1:p.Val101= | |
| ENST00000638802.1:c.303G>A | ENSP00000492437.1:p.Val101= | |
| ENST00000638853.1:c.303G>A | ENSP00000491280.1:p.Val101= | |
| ENST00000638878.1:c.303G>A | ENSP00000492081.1:p.Val101= | |
| ENST00000638913.1:n.1860G>A | ||
| ENST00000638914.3:c.753G>A | ENSP00000492315.2:p.Val251= | |
| ENST00000638963.1:c.711G>A | ENSP00000491948.1:p.Val237= | |
| ENST00000638965.1:c.108G>A | ENSP00000492769.1:p.Val36= | |
| ENST00000639006.1:c.303G>A | ENSP00000491210.1:p.Val101= | |
| ENST00000639034.2:c.711G>A | ENSP00000491679.1:p.Val237= | |
| ENST00000639054.1:n.1834G>A | ||
| ENST00000639061.1:c.303G>A | ENSP00000491324.1:p.Val101= | |
| ENST00000639079.1:c.303G>A | ENSP00000492129.1:p.Val101= | |
| ENST00000639109.1:c.303G>A | ENSP00000491904.1:p.Val101= | |
| ENST00000639386.2:c.303G>A | ENSP00000492658.1:p.Val101= | |
| ENST00000639394.1:c.*592G>A | ENSP00000492177.1:n.*592G>A | |
| ENST00000639409.1:c.753G>A | ENSP00000492476.1:p.Val251= | |
| ENST00000639548.1:c.303G>A | ENSP00000491944.1:p.Val101= | |
| ENST00000639916.1:c.711G>A | ENSP00000490963.1:p.Val237= | |
| ENST00000639943.1:c.552G>A | ENSP00000491229.1:p.Val184= | |
| ENST00000639950.1:c.711G>A | ENSP00000491862.1:p.Val237= | |
| ENST00000640038.1:n.238G>A | ||
| ENST00000640125.1:c.303G>A | ENSP00000492166.1:p.Val101= | |
| ENST00000640172.1:n.1990G>A | ||
| ENST00000640242.1:c.714G>A | ENSP00000492409.1:p.Val238= | |
| ENST00000640287.1:c.711G>A | ENSP00000492822.1:p.Val237= | |
| ENST00000640335.1:c.198G>A | ENSP00000492808.1:p.Val66= | |
| ENST00000640368.2:c.753G>A MANE Select | ENSP00000492024.1:p.Val251= | |
| ENST00000640431.1:c.753G>A | ENSP00000491779.1:p.Val251= | |
| ENST00000640460.1:c.711G>A | ENSP00000492802.1:p.Val237= | |
| ENST00000640610.1:c.711G>A | ENSP00000491295.1:p.Val237= | |
| ENST00000640613.1:c.552G>A | ENSP00000492587.1:p.Val184= | |
| ENST00000640684.1:c.753G>A | ENSP00000491492.1:p.Val251= | |
| ENST00000640735.1:n.1301G>A | ||
| ENST00000640766.1:c.303G>A | ENSP00000491214.1:p.Val101= | |
| ENST00000640872.1:c.303G>A | ENSP00000491065.1:p.Val101= | |
| ENST00000640963.1:c.753G>A | ENSP00000492397.1:p.Val251= | |
| ENST00000640975.1:c.753G>A | ENSP00000491872.1:p.Val251= | |
| ENST00000643871.1:c.711G>A | ENSP00000495109.1:p.Val237= | |
| ENST00000241001.12:c.711G>A | ENSP00000241001.8:p.Val237= | |
| ENST00000379107.6:c.753G>A | ENSP00000368401.2:p.Val251= | |
| ENST00000379109.6:c.711G>A | ENSP00000368403.2:p.Val237= | |
| ENST00000379111.6:c.711G>A | ENSP00000368406.2:p.Val237= | |
| ENST00000379115.8:c.753G>A | ENSP00000368410.4:p.Val251= | |
| ENST00000379123.9:c.711G>A | ENSP00000368418.5:p.Val237= | |
| ENST00000379129.6:c.753G>A | ENSP00000368424.2:p.Val251= | |
| ENST00000379132.7:c.711G>A | ENSP00000368427.2:p.Val237= | |
| ENST00000419022.5:c.753G>A | ENSP00000404100.1:p.Val251= | |
| ENST00000464174.5:n.317G>A | ||
| ENST00000470027.6:n.2286G>A | ||
| ENST00000494377.6:n.1904G>A | ||
| ENST00000530373.5:n.296G>A | ||
| ENST00000531910.5:n.460G>A | ||
| ENST00000532916.5:n.41G>A | ||
| ENST00000533333.5:n.5617G>A | ||
| ENST00000606377.5:c.753G>A | ENSP00000480026.1:p.Val251= | |
| NM_000280.4:c.711G>A | NP_000271.1:p.Val237= | |
| NM_001127612.1:c.711G>A | NP_001121084.1:p.Val237= | |
| NM_001258462.1:c.753G>A | NP_001245391.1:p.Val251= | |
| NM_001258463.1:c.753G>A | NP_001245392.1:p.Val251= | |
| NM_001258464.1:c.711G>A | NP_001245393.1:p.Val237= | |
| NM_001258465.1:c.711G>A | NP_001245394.1:p.Val237= | |
| NM_001310158.1:c.753G>A | NP_001297087.1:p.Val251= | |
| NM_001310159.1:c.711G>A | NP_001297088.1:p.Val237= | |
| NM_001310160.1:c.303G>A | NP_001297089.1:p.Val101= | |
| NM_001310161.1:c.303G>A | NP_001297090.1:p.Val101= | |
| NM_001604.5:c.753G>A | NP_001595.2:p.Val251= | |
| XM_005252954.3:c.753G>A | XP_005253011.1:p.Val251= | |
| XM_005252955.3:c.711G>A | XP_005253012.1:p.Val237= | |
| XM_005252956.3:c.711G>A | XP_005253013.1:p.Val237= | |
| XM_005252958.3:c.303G>A | XP_005253015.1:p.Val101= | |
| XM_006718246.2:c.510G>A | XP_006718309.1:p.Val170= | |
| XM_011520146.1:c.957G>A | XP_011518448.1:p.Val319= | |
| XM_011520147.1:c.915G>A | XP_011518449.1:p.Val305= | |
| XM_011520148.1:c.756G>A | XP_011518450.1:p.Val252= | |
| XM_011520149.1:c.753G>A | XP_011518451.1:p.Val251= | |
| XM_011520150.1:c.753G>A | XP_011518452.1:p.Val251= | |
| XM_011520151.1:c.714G>A | XP_011518453.1:p.Val238= | |
| XM_011520152.1:c.552G>A | XP_011518454.1:p.Val184= | |
| XM_011520153.1:c.303G>A | XP_011518455.1:p.Val101= | |
| NM_001127612.2:c.711G>A | NP_001121084.1:p.Val237= | |
| NM_001258462.2:c.753G>A | NP_001245391.1:p.Val251= | |
| NM_001258465.2:c.711G>A | NP_001245394.1:p.Val237= | |
| NM_001310161.2:c.303G>A | NP_001297090.1:p.Val101= | |
| NM_001368887.1:c.711G>A | NP_001355816.1:p.Val237= | |
| NM_001368888.1:c.711G>A | NP_001355817.1:p.Val237= | |
| NM_001368889.1:c.711G>A | NP_001355818.1:p.Val237= | |
| NM_001368890.1:c.711G>A | NP_001355819.1:p.Val237= | |
| NM_001368891.1:c.711G>A | NP_001355820.1:p.Val237= | |
| NM_001368892.1:c.753G>A | NP_001355821.1:p.Val251= | |
| NM_001368893.1:c.753G>A | NP_001355822.1:p.Val251= | |
| NM_001368894.1:c.753G>A | NP_001355823.1:p.Val251= | |
| NM_001368899.1:c.303G>A | NP_001355828.1:p.Val101= | |
| NM_001368900.1:c.303G>A | NP_001355829.1:p.Val101= | |
| NM_001368901.1:c.303G>A | NP_001355830.1:p.Val101= | |
| NM_001368902.1:c.303G>A | NP_001355831.1:p.Val101= | |
| NM_001368903.1:c.303G>A | NP_001355832.1:p.Val101= | |
| NM_001368904.1:c.303G>A | NP_001355833.1:p.Val101= | |
| NM_001368905.1:c.303G>A | NP_001355834.1:p.Val101= | |
| NM_001368906.1:c.303G>A | NP_001355835.1:p.Val101= | |
| NM_001368907.1:c.303G>A | NP_001355836.1:p.Val101= | |
| NM_001368908.1:c.303G>A | NP_001355837.1:p.Val101= | |
| NM_001368909.1:c.303G>A | NP_001355838.1:p.Val101= | |
| NM_001368910.1:c.954G>A | NP_001355839.1:p.Val318= | |
| NM_001368911.1:c.756G>A | NP_001355840.1:p.Val252= | |
| NM_001368912.1:c.753G>A | NP_001355841.1:p.Val251= | |
| NM_001368913.1:c.753G>A | NP_001355842.1:p.Val251= | |
| NM_001368914.1:c.753G>A | NP_001355843.1:p.Val251= | |
| NM_001368915.1:c.711G>A | NP_001355844.1:p.Val237= | |
| NM_001368916.1:c.711G>A | NP_001355845.1:p.Val237= | |
| NM_001368917.1:c.711G>A | NP_001355846.1:p.Val237= | |
| NM_001368918.1:c.828G>A | NP_001355847.1:p.Val276= | |
| NM_001368919.1:c.828G>A | NP_001355848.1:p.Val276= | |
| NM_001368920.1:c.786G>A | NP_001355849.1:p.Val262= | |
| NM_001368921.1:c.552G>A | NP_001355850.1:p.Val184= | |
| NM_001368922.1:c.552G>A | NP_001355851.1:p.Val184= | |
| NM_001368923.1:c.552G>A | NP_001355852.1:p.Val184= | |
| NM_001368924.1:c.552G>A | NP_001355853.1:p.Val184= | |
| NM_001368925.1:c.552G>A | NP_001355854.1:p.Val184= | |
| NM_001368926.1:c.552G>A | NP_001355855.1:p.Val184= | |
| NM_001368927.1:c.552G>A | NP_001355856.1:p.Val184= | |
| NM_001368928.1:c.510G>A | NP_001355857.1:p.Val170= | |
| NM_001368929.1:c.303G>A | NP_001355858.1:p.Val101= | |
| NM_001368930.1:c.108G>A | NP_001355859.1:p.Val36= | |
| NR_160916.1:n.1147-284G>A | ||
| NR_160917.1:n.1152-284G>A | ||
| NM_000280.5:c.711G>A | NP_000271.1:p.Val237= | |
| NM_001127612.3:c.711G>A | NP_001121084.1:p.Val237= | |
| NM_001258462.3:c.753G>A | NP_001245391.1:p.Val251= | |
| NM_001258463.2:c.753G>A | NP_001245392.1:p.Val251= | |
| NM_001258464.2:c.711G>A | NP_001245393.1:p.Val237= | |
| NM_001258465.3:c.711G>A | NP_001245394.1:p.Val237= | |
| NM_001310158.2:c.753G>A | NP_001297087.1:p.Val251= | |
| NM_001310160.2:c.303G>A | NP_001297089.1:p.Val101= | |
| NM_001310161.3:c.303G>A | NP_001297090.1:p.Val101= | |
| NM_001368887.2:c.711G>A | NP_001355816.1:p.Val237= | |
| NM_001368888.2:c.711G>A | NP_001355817.1:p.Val237= | |
| NM_001368889.2:c.711G>A | NP_001355818.1:p.Val237= | |
| NM_001368890.2:c.711G>A | NP_001355819.1:p.Val237= | |
| NM_001368891.2:c.711G>A | NP_001355820.1:p.Val237= | |
| NM_001368892.2:c.753G>A | NP_001355821.1:p.Val251= | |
| NM_001368893.2:c.753G>A | NP_001355822.1:p.Val251= | |
| NM_001368894.2:c.753G>A MANE Select | NP_001355823.1:p.Val251= | |
| NM_001368899.2:c.303G>A | NP_001355828.1:p.Val101= | |
| NM_001368900.2:c.303G>A | NP_001355829.1:p.Val101= | |
| NM_001368901.2:c.303G>A | NP_001355830.1:p.Val101= | |
| NM_001368902.2:c.303G>A | NP_001355831.1:p.Val101= | |
| NM_001368903.2:c.303G>A | NP_001355832.1:p.Val101= | |
| NM_001368904.2:c.303G>A | NP_001355833.1:p.Val101= | |
| NM_001368905.2:c.303G>A | NP_001355834.1:p.Val101= | |
| NM_001368906.2:c.303G>A | NP_001355835.1:p.Val101= | |
| NM_001368907.2:c.303G>A | NP_001355836.1:p.Val101= | |
| NM_001368908.2:c.303G>A | NP_001355837.1:p.Val101= | |
| NM_001368909.2:c.303G>A | NP_001355838.1:p.Val101= | |
| NM_001368910.2:c.954G>A | NP_001355839.1:p.Val318= | |
| NM_001368911.2:c.756G>A | NP_001355840.1:p.Val252= | |
| NM_001368912.2:c.753G>A | NP_001355841.1:p.Val251= | |
| NM_001368913.2:c.753G>A | NP_001355842.1:p.Val251= | |
| NM_001368914.2:c.753G>A | NP_001355843.1:p.Val251= | |
| NM_001368915.2:c.711G>A | NP_001355844.1:p.Val237= | |
| NM_001368916.2:c.711G>A | NP_001355845.1:p.Val237= | |
| NM_001368917.2:c.711G>A | NP_001355846.1:p.Val237= | |
| NM_001368918.2:c.828G>A | NP_001355847.1:p.Val276= | |
| NM_001368919.2:c.828G>A | NP_001355848.1:p.Val276= | |
| NM_001368920.2:c.786G>A | NP_001355849.1:p.Val262= | |
| NM_001368921.2:c.552G>A | NP_001355850.1:p.Val184= | |
| NM_001368922.2:c.552G>A | NP_001355851.1:p.Val184= | |
| NM_001368923.2:c.552G>A | NP_001355852.1:p.Val184= | |
| NM_001368924.2:c.552G>A | NP_001355853.1:p.Val184= | |
| NM_001368925.2:c.552G>A | NP_001355854.1:p.Val184= | |
| NM_001368926.2:c.552G>A | NP_001355855.1:p.Val184= | |
| NM_001368927.2:c.552G>A | NP_001355856.1:p.Val184= | |
| NM_001368928.2:c.510G>A | NP_001355857.1:p.Val170= | |
| NM_001368929.2:c.303G>A | NP_001355858.1:p.Val101= | |
| NM_001368930.2:c.108G>A | NP_001355859.1:p.Val36= | |
| NM_001604.6:c.753G>A | NP_001595.2:p.Val251= | |
| NR_160916.2:n.1147-284G>A | ||
| NR_160917.2:n.1152-284G>A | ||
| NM_000280.6:c.711G>A | NP_000271.1:p.Val237= |