Linked Data
ClinVar Variation Id:
423742
dbSNP Id:
rs372788076
ExAC:
7:73474338 G / A
gnomAD v2:
7-73474338-G-A
gnomAD v3:
7-74060008-G-A
gnomAD v4:
7-74060008-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74060008G>A , CM000669.2:g.74060008G>A | GRCh38 |
| NC_000007.13:g.73474338G>A , CM000669.1:g.73474338G>A | GRCh37 |
| NC_000007.12:g.73112274G>A | NCBI36 |
| NG_009261.1:g.36912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.1624G>A (ELN) | ENSP00000510104.1:p.Val542Ile | |
| ENST00000252034.12:c.1537G>A (ELN) MANE Select | ENSP00000252034.7:p.Val513Ile | |
| ENST00000252034.11:c.1537G>A (ELN) | ENSP00000252034.7:p.Val513Ile | |
| ENST00000320399.10:c.1537G>A (ELN) | ENSP00000313565.6:p.Val513Ile | |
| ENST00000320492.11:c.1294G>A (ELN) | ENSP00000315607.7:p.Val432Ile | |
| ENST00000357036.9:c.1552G>A (ELN) | ENSP00000349540.5:p.Val518Ile | |
| ENST00000358929.8:c.1624G>A (ELN) | ENSP00000351807.5:p.Val542Ile | |
| ENST00000380553.8:c.1129G>A (ELN) | ENSP00000369926.4:p.Val377Ile | |
| ENST00000380562.8:c.1555G>A (ELN) | ENSP00000369936.4:p.Val519Ile | |
| ENST00000380575.8:c.1450G>A (ELN) | ENSP00000369949.4:p.Val484Ile | |
| ENST00000380576.9:c.1480G>A (ELN) | ENSP00000369950.5:p.Val494Ile | |
| ENST00000380584.8:c.1438G>A (ELN) | ENSP00000369958.4:p.Val480Ile | |
| ENST00000414324.5:c.1465G>A (ELN) | ENSP00000392575.1:p.Val489Ile | |
| ENST00000429192.5:c.1495G>A (ELN) | ENSP00000391129.1:p.Val499Ile | |
| ENST00000445912.5:c.1537G>A (ELN) | ENSP00000389857.1:p.Val513Ile | |
| ENST00000458204.5:c.1507G>A (ELN) | ENSP00000403162.1:p.Val503Ile | |
| ENST00000621115.4:c.1270G>A (ELN) | ENSP00000480955.1:p.Val424Ile | |
| NM_000501.3:c.1537G>A (ELN) | NP_000492.2:p.Val513Ile | |
| NM_001081752.2:c.1450G>A (ELN) | NP_001075221.1:p.Val484Ile | |
| NM_001081753.2:c.1495G>A (ELN) | NP_001075222.1:p.Val499Ile | |
| NM_001081754.2:c.1552G>A (ELN) | NP_001075223.1:p.Val518Ile | |
| NM_001081755.2:c.1480G>A (ELN) | NP_001075224.1:p.Val494Ile | |
| NM_001278912.1:c.1537G>A (ELN) | NP_001265841.1:p.Val513Ile | |
| NM_001278913.1:c.1294G>A (ELN) | NP_001265842.1:p.Val432Ile | |
| NM_001278914.1:c.1465G>A (ELN) | NP_001265843.1:p.Val489Ile | |
| NM_001278915.1:c.1555G>A (ELN) | NP_001265844.1:p.Val519Ile | |
| NM_001278916.1:c.1438G>A (ELN) | NP_001265845.1:p.Val480Ile | |
| NM_001278917.1:c.1507G>A (ELN) | NP_001265846.1:p.Val503Ile | |
| NM_001278918.1:c.1270G>A (ELN) | NP_001265847.1:p.Val424Ile | |
| NM_001278939.1:c.1624G>A (ELN) | NP_001265868.1:p.Val542Ile | |
| XM_005250187.1:c.1501G>A (ELN) | XP_005250244.1:p.Val501Ile | |
| XM_005250188.1:c.1495G>A (ELN) | XP_005250245.1:p.Val499Ile | |
| XM_011515868.1:c.1552G>A (ELN) | XP_011514170.1:p.Val518Ile | |
| XM_011515869.1:c.1522G>A (ELN) | XP_011514171.1:p.Val508Ile | |
| XM_011515870.1:c.1516G>A (ELN) | XP_011514172.1:p.Val506Ile | |
| XM_011515871.1:c.1510G>A (ELN) | XP_011514173.1:p.Val504Ile | |
| XM_011515872.1:c.1498G>A (ELN) | XP_011514174.1:p.Val500Ile | |
| XM_011515873.1:c.1495G>A (ELN) | XP_011514175.1:p.Val499Ile | |
| XM_011515874.1:c.1486G>A (ELN) | XP_011514176.1:p.Val496Ile | |
| XM_011515875.1:c.1471G>A (ELN) | XP_011514177.1:p.Val491Ile | |
| XM_011515876.1:c.1552G>A (ELN) | XP_011514178.1:p.Val518Ile | |
| XM_011515877.1:c.1441G>A (ELN) | XP_011514179.1:p.Val481Ile | |
| XM_005250187.2:c.1501G>A (ELN) | XP_005250244.1:p.Val501Ile | |
| XM_005250188.2:c.1495G>A (ELN) | XP_005250245.1:p.Val499Ile | |
| XM_011515868.2:c.1552G>A (ELN) | XP_011514170.1:p.Val518Ile | |
| XM_011515871.2:c.1510G>A (ELN) | XP_011514173.1:p.Val504Ile | |
| XM_011515872.2:c.1498G>A (ELN) | XP_011514174.1:p.Val500Ile | |
| XM_011515873.2:c.1495G>A (ELN) | XP_011514175.1:p.Val499Ile | |
| XM_011515875.2:c.1471G>A (ELN) | XP_011514177.1:p.Val491Ile | |
| XM_011515876.2:c.1552G>A (ELN) | XP_011514178.1:p.Val518Ile | |
| XM_011515877.2:c.1441G>A (ELN) | XP_011514179.1:p.Val481Ile | |
| XM_017011813.1:c.1465G>A (ELN) | XP_016867302.1:p.Val489Ile | |
| XM_017011814.2:c.1453G>A (ELN) | XP_016867303.1:p.Val485Ile | |
| XR_001745243.1:n.100C>T (ELN-AS1) | ||
| NM_000501.4:c.1537G>A (ELN) MANE Select | NP_000492.2:p.Val513Ile | |
| NM_001081752.3:c.1450G>A (ELN) | NP_001075221.1:p.Val484Ile | |
| NM_001081753.3:c.1495G>A (ELN) | NP_001075222.1:p.Val499Ile | |
| NM_001081754.3:c.1552G>A (ELN) | NP_001075223.1:p.Val518Ile | |
| NM_001081755.3:c.1480G>A (ELN) | NP_001075224.1:p.Val494Ile | |
| NM_001278912.2:c.1537G>A (ELN) | NP_001265841.1:p.Val513Ile | |
| NM_001278913.2:c.1294G>A (ELN) | NP_001265842.1:p.Val432Ile | |
| NM_001278914.2:c.1465G>A (ELN) | NP_001265843.1:p.Val489Ile | |
| NM_001278915.2:c.1555G>A (ELN) | NP_001265844.1:p.Val519Ile | |
| NM_001278916.2:c.1438G>A (ELN) | NP_001265845.1:p.Val480Ile | |
| NM_001278917.2:c.1507G>A (ELN) | NP_001265846.1:p.Val503Ile | |
| NM_001278918.2:c.1270G>A (ELN) | NP_001265847.1:p.Val424Ile | |
| NM_001278939.2:c.1624G>A (ELN) | NP_001265868.1:p.Val542Ile |