Linked Data
ClinVar Variation Id:
524219
dbSNP Id:
rs560081099
ExAC:
7:73474759 G / A
gnomAD v2:
7-73474759-G-A
gnomAD v3:
7-74060429-G-A
gnomAD v4:
7-74060429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74060429G>A , CM000669.2:g.74060429G>A | GRCh38 |
| NC_000007.13:g.73474759G>A , CM000669.1:g.73474759G>A | GRCh37 |
| NC_000007.12:g.73112695G>A | NCBI36 |
| NG_009261.1:g.37333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.1762G>A (ELN) | ENSP00000510104.1:p.Val588Ile | |
| ENST00000252034.12:c.1675G>A (ELN) MANE Select | ENSP00000252034.7:p.Val559Ile | |
| ENST00000252034.11:c.1675G>A (ELN) | ENSP00000252034.7:p.Val559Ile | |
| ENST00000320399.10:c.1675G>A (ELN) | ENSP00000313565.6:p.Val559Ile | |
| ENST00000320492.11:c.1432G>A (ELN) | ENSP00000315607.7:p.Val478Ile | |
| ENST00000357036.9:c.1690G>A (ELN) | ENSP00000349540.5:p.Val564Ile | |
| ENST00000358929.8:c.1762G>A (ELN) | ENSP00000351807.5:p.Val588Ile | |
| ENST00000380553.8:c.1267G>A (ELN) | ENSP00000369926.4:p.Val423Ile | |
| ENST00000380562.8:c.1693G>A (ELN) | ENSP00000369936.4:p.Val565Ile | |
| ENST00000380575.8:c.1588G>A (ELN) | ENSP00000369949.4:p.Val530Ile | |
| ENST00000380576.9:c.1618G>A (ELN) | ENSP00000369950.5:p.Val540Ile | |
| ENST00000380584.8:c.1531G>A (ELN) | ENSP00000369958.4:p.Val511Ile | |
| ENST00000414324.5:c.1603G>A (ELN) | ENSP00000392575.1:p.Val535Ile | |
| ENST00000429192.5:c.1633G>A (ELN) | ENSP00000391129.1:p.Val545Ile | |
| ENST00000445912.5:c.1675G>A (ELN) | ENSP00000389857.1:p.Val559Ile | |
| ENST00000458204.5:c.1645G>A (ELN) | ENSP00000403162.1:p.Val549Ile | |
| ENST00000621115.4:c.1408G>A (ELN) | ENSP00000480955.1:p.Val470Ile | |
| NM_000501.3:c.1675G>A (ELN) | NP_000492.2:p.Val559Ile | |
| NM_001081752.2:c.1588G>A (ELN) | NP_001075221.1:p.Val530Ile | |
| NM_001081753.2:c.1633G>A (ELN) | NP_001075222.1:p.Val545Ile | |
| NM_001081754.2:c.1690G>A (ELN) | NP_001075223.1:p.Val564Ile | |
| NM_001081755.2:c.1618G>A (ELN) | NP_001075224.1:p.Val540Ile | |
| NM_001278912.1:c.1675G>A (ELN) | NP_001265841.1:p.Val559Ile | |
| NM_001278913.1:c.1432G>A (ELN) | NP_001265842.1:p.Val478Ile | |
| NM_001278914.1:c.1603G>A (ELN) | NP_001265843.1:p.Val535Ile | |
| NM_001278915.1:c.1693G>A (ELN) | NP_001265844.1:p.Val565Ile | |
| NM_001278916.1:c.1531G>A (ELN) | NP_001265845.1:p.Val511Ile | |
| NM_001278917.1:c.1645G>A (ELN) | NP_001265846.1:p.Val549Ile | |
| NM_001278918.1:c.1408G>A (ELN) | NP_001265847.1:p.Val470Ile | |
| NM_001278939.1:c.1762G>A (ELN) | NP_001265868.1:p.Val588Ile | |
| XM_005250187.1:c.1639G>A (ELN) | XP_005250244.1:p.Val547Ile | |
| XM_005250188.1:c.1633G>A (ELN) | XP_005250245.1:p.Val545Ile | |
| XM_011515868.1:c.1690G>A (ELN) | XP_011514170.1:p.Val564Ile | |
| XM_011515869.1:c.1660G>A (ELN) | XP_011514171.1:p.Val554Ile | |
| XM_011515870.1:c.1654G>A (ELN) | XP_011514172.1:p.Val552Ile | |
| XM_011515871.1:c.1648G>A (ELN) | XP_011514173.1:p.Val550Ile | |
| XM_011515872.1:c.1636G>A (ELN) | XP_011514174.1:p.Val546Ile | |
| XM_011515873.1:c.1633G>A (ELN) | XP_011514175.1:p.Val545Ile | |
| XM_011515874.1:c.1624G>A (ELN) | XP_011514176.1:p.Val542Ile | |
| XM_011515875.1:c.1609G>A (ELN) | XP_011514177.1:p.Val537Ile | |
| XM_011515876.1:c.1690G>A (ELN) | XP_011514178.1:p.Val564Ile | |
| XM_011515877.1:c.1579G>A (ELN) | XP_011514179.1:p.Val527Ile | |
| XM_005250187.2:c.1639G>A (ELN) | XP_005250244.1:p.Val547Ile | |
| XM_005250188.2:c.1633G>A (ELN) | XP_005250245.1:p.Val545Ile | |
| XM_011515868.2:c.1690G>A (ELN) | XP_011514170.1:p.Val564Ile | |
| XM_011515871.2:c.1648G>A (ELN) | XP_011514173.1:p.Val550Ile | |
| XM_011515872.2:c.1636G>A (ELN) | XP_011514174.1:p.Val546Ile | |
| XM_011515873.2:c.1633G>A (ELN) | XP_011514175.1:p.Val545Ile | |
| XM_011515875.2:c.1609G>A (ELN) | XP_011514177.1:p.Val537Ile | |
| XM_011515876.2:c.1690G>A (ELN) | XP_011514178.1:p.Val564Ile | |
| XM_011515877.2:c.1579G>A (ELN) | XP_011514179.1:p.Val527Ile | |
| XM_017011813.1:c.1603G>A (ELN) | XP_016867302.1:p.Val535Ile | |
| XM_017011814.2:c.1591G>A (ELN) | XP_016867303.1:p.Val531Ile | |
| XR_001745243.1:n.76-397C>T (ELN-AS1) | ||
| NM_000501.4:c.1675G>A (ELN) MANE Select | NP_000492.2:p.Val559Ile | |
| NM_001081752.3:c.1588G>A (ELN) | NP_001075221.1:p.Val530Ile | |
| NM_001081753.3:c.1633G>A (ELN) | NP_001075222.1:p.Val545Ile | |
| NM_001081754.3:c.1690G>A (ELN) | NP_001075223.1:p.Val564Ile | |
| NM_001081755.3:c.1618G>A (ELN) | NP_001075224.1:p.Val540Ile | |
| NM_001278912.2:c.1675G>A (ELN) | NP_001265841.1:p.Val559Ile | |
| NM_001278913.2:c.1432G>A (ELN) | NP_001265842.1:p.Val478Ile | |
| NM_001278914.2:c.1603G>A (ELN) | NP_001265843.1:p.Val535Ile | |
| NM_001278915.2:c.1693G>A (ELN) | NP_001265844.1:p.Val565Ile | |
| NM_001278916.2:c.1531G>A (ELN) | NP_001265845.1:p.Val511Ile | |
| NM_001278917.2:c.1645G>A (ELN) | NP_001265846.1:p.Val549Ile | |
| NM_001278918.2:c.1408G>A (ELN) | NP_001265847.1:p.Val470Ile | |
| NM_001278939.2:c.1762G>A (ELN) | NP_001265868.1:p.Val588Ile |