Linked Data
dbSNP Id:
rs762180586
ExAC:
7:135329750 G / A
gnomAD v2:
7-135329750-G-A
gnomAD v3:
7-135645002-G-A
gnomAD v4:
7-135645002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135645002G>A , CM000669.2:g.135645002G>A | GRCh38 |
| NC_000007.13:g.135329750G>A , CM000669.1:g.135329750G>A | GRCh37 |
| NC_000007.12:g.134980290G>A | NCBI36 |
| NG_051184.1:g.92089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285968.11:c.5667G>A MANE Select | ENSP00000285968.6:p.Leu1889= | |
| ENST00000285968.10:c.5667G>A | ENSP00000285968.6:p.Leu1889= | |
| ENST00000461255.5:n.874G>A | ||
| ENST00000477620.5:c.1405+24G>A | ||
| ENST00000490439.1:c.104G>A | ||
| ENST00000607647.5:n.3945G>A | ||
| NM_015135.2:c.5667G>A | NP_055950.1:p.Leu1889= | |
| XM_005250235.2:c.4593G>A | XP_005250292.1:p.Leu1531= | |
| NM_001329434.1:c.4593G>A | NP_001316363.1:p.Leu1531= | |
| NM_015135.3:c.5667G>A MANE Select | NP_055950.2:p.Leu1889= | |
| NM_001329434.2:c.4593G>A | NP_001316363.2:p.Leu1531= |