Linked Data
ClinVar Variation Id:
2812676
ClinVar RCV Id:
RCV003746999
dbSNP Id:
rs1462718508
gnomAD v2:
6-83888446-T-A
gnomAD v4:
6-83178727-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83178727T>A , CM000668.2:g.83178727T>A | GRCh38 |
| NC_000006.11:g.83888446T>A , CM000668.1:g.83888446T>A | GRCh37 |
| NC_000006.10:g.83945165T>A | NCBI36 |
| NG_034146.1:g.20210A>T | |
| NG_034146.2:g.20174A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504780.6:c.788-2667A>T | ENSP00000421154.2:n.788-2667A>T | |
| ENST00000505470.6:c.*755A>T | ENSP00000423769.1:n.*755A>T | |
| ENST00000507554.2:c.975A>T | ENSP00000425558.2:p.Val325= | |
| ENST00000508748.6:c.1059A>T | ENSP00000424865.2:p.Val353= | |
| ENST00000651204.2:c.787+3009A>T | ENSP00000498912.2:n.787+3009A>T | |
| ENST00000651698.2:c.788-2667A>T | ENSP00000498398.2:n.788-2667A>T | |
| ENST00000652222.2:c.975A>T | ENSP00000499141.2:p.Val325= | |
| ENST00000698524.1:c.975A>T | ENSP00000513773.1:p.Val325= | |
| ENST00000698525.1:c.205-4240A>T | ENSP00000513774.1:n.205-4240A>T | |
| ENST00000698526.1:c.975A>T | ENSP00000513775.1:p.Val325= | |
| ENST00000698599.1:c.975A>T | ENSP00000513827.1:p.Val325= | |
| ENST00000698600.1:c.788-2667A>T | ENSP00000513828.1:n.788-2667A>T | |
| ENST00000698601.1:c.*554A>T | ENSP00000513829.1:n.*554A>T | |
| ENST00000698602.1:c.975A>T | ENSP00000513830.1:p.Val325= | |
| ENST00000698603.1:c.*755A>T | ENSP00000513831.1:n.*755A>T | |
| ENST00000698604.1:c.*568-2667A>T | ENSP00000513832.1:n.*568-2667A>T | |
| ENST00000698605.1:c.*755A>T | ENSP00000513833.1:n.*755A>T | |
| ENST00000698606.1:n.2879-2667A>T | ||
| ENST00000698607.1:c.788-2667A>T | ENSP00000513834.1:n.788-2667A>T | |
| ENST00000698608.1:c.732A>T | ENSP00000513835.1:p.Val244= | |
| ENST00000698609.1:c.817A>T | ENSP00000513836.1:p.Thr273Ser | |
| ENST00000698610.1:c.732A>T | ENSP00000513837.1:p.Val244= | |
| ENST00000698611.1:n.4612A>T | ||
| ENST00000698612.1:c.592-2667A>T | ENSP00000513838.1:n.592-2667A>T | |
| ENST00000698613.1:c.975A>T | ENSP00000513839.1:p.Val325= | |
| ENST00000698614.1:c.788-2667A>T | ENSP00000513840.1:n.788-2667A>T | |
| ENST00000698615.1:c.*574A>T | ENSP00000513841.1:n.*574A>T | |
| ENST00000698616.1:n.1064A>T | ||
| ENST00000698617.1:n.1201A>T | ||
| ENST00000698618.1:c.*755A>T | ENSP00000513842.1:n.*755A>T | |
| ENST00000698619.1:n.1064A>T | ||
| ENST00000698620.1:c.788-2667A>T | ENSP00000513843.1:n.788-2667A>T | |
| ENST00000283977.9:c.732A>T | ENSP00000283977.5:p.Val244= | |
| ENST00000509219.2:c.975A>T | ENSP00000423389.2:p.Val325= | |
| ENST00000513973.6:c.975A>T MANE Select | ENSP00000424874.1:p.Val325= | |
| ENST00000616566.5:c.732A>T | ENSP00000477539.2:p.Val244= | |
| ENST00000650640.1:c.817A>T | ENSP00000498423.1:p.Thr273Ser | |
| ENST00000650642.1:c.975A>T | ENSP00000498516.1:p.Val325= | |
| ENST00000651204.1:c.747+3009A>T | ||
| ENST00000651425.1:c.732A>T | ENSP00000498986.1:p.Val244= | |
| ENST00000651698.1:c.144-2667A>T | ||
| ENST00000652222.1:c.729A>T | ENSP00000499141.1:p.Val243= | |
| ENST00000652468.1:c.975A>T | ENSP00000499112.1:p.Val325= | |
| ENST00000283977.8:c.732A>T | ENSP00000283977.4:p.Val244= | |
| ENST00000506587.5:c.1059A>T | ENSP00000425809.1:p.Val353= | |
| ENST00000512866.5:c.975A>T | ENSP00000421565.1:p.Val325= | |
| ENST00000513973.5:c.975A>T | ENSP00000424874.1:p.Val325= | |
| ENST00000616566.4:c.732A>T | ENSP00000477539.1:p.Val244= | |
| NM_001199917.1:c.1059A>T | NP_001186846.1:p.Val353= | |
| NM_001199918.1:c.732A>T | NP_001186847.1:p.Val244= | |
| NM_001199919.1:c.975A>T | NP_001186848.1:p.Val325= | |
| NM_015599.2:c.975A>T | NP_056414.1:p.Val325= | |
| XM_011535901.1:c.1059A>T | XP_011534203.1:p.Val353= | |
| XM_011535902.1:c.1059A>T | XP_011534204.1:p.Val353= | |
| XM_011535903.1:c.1059A>T | XP_011534205.1:p.Val353= | |
| XR_942476.1:n.1216A>T | ||
| XR_942477.1:n.1201A>T | ||
| XR_942478.1:n.1065A>T | ||
| XR_942479.1:n.1091A>T | ||
| XR_942480.1:n.859A>T | ||
| XM_017010935.1:c.732A>T | XP_016866424.1:p.Val244= | |
| XM_017010937.1:c.732A>T | XP_016866426.1:p.Val244= | |
| XM_024446459.1:c.975A>T | XP_024302227.1:p.Val325= | |
| XM_024446460.1:c.1059A>T | XP_024302228.1:p.Val353= | |
| XR_001743468.2:n.859A>T | ||
| XR_942478.3:n.1065A>T | ||
| XR_942480.2:n.859A>T | ||
| NM_001199917.2:c.1059A>T | NP_001186846.1:p.Val353= | |
| NM_001367286.1:c.975A>T | NP_001354215.1:p.Val325= | |
| NM_001367287.1:c.1059A>T | NP_001354216.1:p.Val353= | |
| NM_015599.3:c.975A>T MANE Select | NP_056414.1:p.Val325= | |
| NR_159812.1:n.1064A>T | ||
| NM_001199918.2:c.732A>T | NP_001186847.1:p.Val244= | |
| NM_001199919.2:c.975A>T | NP_001186848.1:p.Val325= | |
| NR_159812.2:n.1064A>T |