Linked Data
dbSNP Id:
rs766626880
ExAC:
1:173878873 G / T
gnomAD v2:
1-173878873-G-T
gnomAD v4:
1-173909735-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909735G>T , CM000663.2:g.173909735G>T | GRCh38 |
| NC_000001.10:g.173878873G>T , CM000663.1:g.173878873G>T | GRCh37 |
| NC_000001.9:g.172145496G>T | NCBI36 |
| NG_012462.1:g.12644C>A , LRG_577:g.12644C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.970C>A MANE Select | ENSP00000356671.3:p.Leu324Met | |
| ENST00000367698.3:c.970C>A | ENSP00000356671.3:p.Leu324Met | |
| ENST00000487183.1:n.621C>A | ||
| ENST00000617423.4:c.559+2129C>A | ENSP00000478688.1:n.559+2129C>A | |
| NM_000488.3:c.970C>A , LRG_577t1:c.970C>A | NP_000479.1:p.Leu324Met | |
| XM_005245198.2:c.826C>A | XP_005245255.1:p.Leu276Met | |
| NM_001365052.1:c.826C>A | NP_001351981.1:p.Leu276Met | |
| NM_000488.4:c.970C>A MANE Select | NP_000479.1:p.Leu324Met | |
| NM_001365052.2:c.826C>A | NP_001351981.1:p.Leu276Met | |
| NM_001386302.1:c.1093C>A | NP_001373231.1:p.Leu365Met | |
| NM_001386303.1:c.1051C>A | NP_001373232.1:p.Leu351Met | |
| NM_001386304.1:c.949C>A | NP_001373233.1:p.Leu317Met | |
| NM_001386305.1:c.913C>A | NP_001373234.1:p.Leu305Met | |
| NM_001386306.1:c.754C>A | NP_001373235.1:p.Leu252Met |