Linked Data
ClinVar Variation Id:
360661
dbSNP Id:
rs369804770
ExAC:
7:73480318 C / T
gnomAD v2:
7-73480318-C-T
gnomAD v3:
7-74065988-C-T
gnomAD v4:
7-74065988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74065988C>T , CM000669.2:g.74065988C>T | GRCh38 |
| NC_000007.13:g.73480318C>T , CM000669.1:g.73480318C>T | GRCh37 |
| NC_000007.12:g.73118254C>T | NCBI36 |
| NG_009261.1:g.42892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.2263C>T | ENSP00000510104.1:p.Pro755Ser | |
| ENST00000252034.12:c.2077C>T MANE Select | ENSP00000252034.7:p.Pro693Ser | |
| ENST00000252034.11:c.2077C>T | ENSP00000252034.7:p.Pro693Ser | |
| ENST00000320399.10:c.2176C>T | ENSP00000313565.6:p.Pro726Ser | |
| ENST00000320492.11:c.1834C>T | ENSP00000315607.7:p.Pro612Ser | |
| ENST00000357036.9:c.2047+256C>T | ENSP00000349540.5:n.2047+256C>T | |
| ENST00000358929.8:c.2263C>T | ENSP00000351807.5:p.Pro755Ser | |
| ENST00000380553.8:c.1624+256C>T | ENSP00000369926.4:n.1624+256C>T | |
| ENST00000380562.8:c.2095C>T | ENSP00000369936.4:p.Pro699Ser | |
| ENST00000380575.8:c.1945+256C>T | ENSP00000369949.4:n.1945+256C>T | |
| ENST00000380576.9:c.2020C>T | ENSP00000369950.5:p.Pro674Ser | |
| ENST00000380584.8:c.1888+256C>T | ENSP00000369958.4:n.1888+256C>T | |
| ENST00000414324.5:c.2005C>T | ENSP00000392575.1:p.Pro669Ser | |
| ENST00000429192.5:c.1990+256C>T | ENSP00000391129.1:n.1990+256C>T | |
| ENST00000445912.5:c.2032+256C>T | ENSP00000389857.1:n.2032+256C>T | |
| ENST00000458204.5:c.2047C>T | ENSP00000403162.1:p.Pro683Ser | |
| ENST00000621115.4:c.1765+256C>T | ENSP00000480955.1:n.1765+256C>T | |
| NM_000501.3:c.2077C>T | NP_000492.2:p.Pro693Ser | |
| NM_001081752.2:c.1945+256C>T | NP_001075221.1:n.1945+256C>T | |
| NM_001081753.2:c.1990+256C>T | NP_001075222.1:n.1990+256C>T | |
| NM_001081754.2:c.2047+256C>T | NP_001075223.1:n.2047+256C>T | |
| NM_001081755.2:c.2020C>T | NP_001075224.1:p.Pro674Ser | |
| NM_001278912.1:c.2032+256C>T | NP_001265841.1:n.2032+256C>T | |
| NM_001278913.1:c.1834C>T | NP_001265842.1:p.Pro612Ser | |
| NM_001278914.1:c.2005C>T | NP_001265843.1:p.Pro669Ser | |
| NM_001278915.1:c.2095C>T | NP_001265844.1:p.Pro699Ser | |
| NM_001278916.1:c.1888+256C>T | NP_001265845.1:n.1888+256C>T | |
| NM_001278917.1:c.2047C>T | NP_001265846.1:p.Pro683Ser | |
| NM_001278918.1:c.1765+256C>T | NP_001265847.1:n.1765+256C>T | |
| NM_001278939.1:c.2263C>T | NP_001265868.1:p.Pro755Ser | |
| XM_005250187.1:c.2041C>T | XP_005250244.1:p.Pro681Ser | |
| XM_005250188.1:c.2035C>T | XP_005250245.1:p.Pro679Ser | |
| XM_011515868.1:c.2092C>T | XP_011514170.1:p.Pro698Ser | |
| XM_011515869.1:c.2062C>T | XP_011514171.1:p.Pro688Ser | |
| XM_011515870.1:c.2056C>T | XP_011514172.1:p.Pro686Ser | |
| XM_011515871.1:c.2050C>T | XP_011514173.1:p.Pro684Ser | |
| XM_011515872.1:c.2038C>T | XP_011514174.1:p.Pro680Ser | |
| XM_011515873.1:c.2035C>T | XP_011514175.1:p.Pro679Ser | |
| XM_011515874.1:c.2026C>T | XP_011514176.1:p.Pro676Ser | |
| XM_011515875.1:c.2011C>T | XP_011514177.1:p.Pro671Ser | |
| XM_011515876.1:c.2047+256C>T | XP_011514178.1:n.2047+256C>T | |
| XM_011515877.1:c.1981C>T | XP_011514179.1:p.Pro661Ser | |
| XM_005250187.2:c.2041C>T | XP_005250244.1:p.Pro681Ser | |
| XM_005250188.2:c.2035C>T | XP_005250245.1:p.Pro679Ser | |
| XM_011515868.2:c.2092C>T | XP_011514170.1:p.Pro698Ser | |
| XM_011515871.2:c.2050C>T | XP_011514173.1:p.Pro684Ser | |
| XM_011515872.2:c.2038C>T | XP_011514174.1:p.Pro680Ser | |
| XM_011515873.2:c.2035C>T | XP_011514175.1:p.Pro679Ser | |
| XM_011515875.2:c.2011C>T | XP_011514177.1:p.Pro671Ser | |
| XM_011515876.2:c.2047+256C>T | XP_011514178.1:n.2047+256C>T | |
| XM_011515877.2:c.1981C>T | XP_011514179.1:p.Pro661Ser | |
| XM_017011813.1:c.2005C>T | XP_016867302.1:p.Pro669Ser | |
| XM_017011814.2:c.1993C>T | XP_016867303.1:p.Pro665Ser | |
| NM_000501.4:c.2077C>T MANE Select | NP_000492.2:p.Pro693Ser | |
| NM_001081752.3:c.1945+256C>T | NP_001075221.1:n.1945+256C>T | |
| NM_001081753.3:c.1990+256C>T | NP_001075222.1:n.1990+256C>T | |
| NM_001081754.3:c.2047+256C>T | NP_001075223.1:n.2047+256C>T | |
| NM_001081755.3:c.2020C>T | NP_001075224.1:p.Pro674Ser | |
| NM_001278912.2:c.2032+256C>T | NP_001265841.1:n.2032+256C>T | |
| NM_001278913.2:c.1834C>T | NP_001265842.1:p.Pro612Ser | |
| NM_001278914.2:c.2005C>T | NP_001265843.1:p.Pro669Ser | |
| NM_001278915.2:c.2095C>T | NP_001265844.1:p.Pro699Ser | |
| NM_001278916.2:c.1888+256C>T | NP_001265845.1:n.1888+256C>T | |
| NM_001278917.2:c.2047C>T | NP_001265846.1:p.Pro683Ser | |
| NM_001278918.2:c.1765+256C>T | NP_001265847.1:n.1765+256C>T | |
| NM_001278939.2:c.2263C>T | NP_001265868.1:p.Pro755Ser |