Linked Data
ClinVar Variation Id:
1641867
ClinVar RCV Id:
RCV002134415
dbSNP Id:
rs139275128
ExAC:
1:173879035 G / A
gnomAD v2:
1-173879035-G-A
gnomAD v3:
1-173909897-G-A
gnomAD v4:
1-173909897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909897G>A , CM000663.2:g.173909897G>A | GRCh38 |
| NC_000001.10:g.173879035G>A , CM000663.1:g.173879035G>A | GRCh37 |
| NC_000001.9:g.172145658G>A | NCBI36 |
| NG_012462.1:g.12482C>T , LRG_577:g.12482C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.808C>T MANE Select | ENSP00000356671.3:p.Leu270= | |
| ENST00000367698.3:c.808C>T | ENSP00000356671.3:p.Leu270= | |
| ENST00000487183.1:n.459C>T | ||
| ENST00000617423.4:c.559+1967C>T | ENSP00000478688.1:n.559+1967C>T | |
| NM_000488.3:c.808C>T , LRG_577t1:c.808C>T | NP_000479.1:p.Leu270= | |
| XM_005245198.2:c.664C>T | XP_005245255.1:p.Leu222= | |
| NM_001365052.1:c.664C>T | NP_001351981.1:p.Leu222= | |
| NM_000488.4:c.808C>T MANE Select | NP_000479.1:p.Leu270= | |
| NM_001365052.2:c.664C>T | NP_001351981.1:p.Leu222= | |
| NM_001386302.1:c.931C>T | NP_001373231.1:p.Leu311= | |
| NM_001386303.1:c.889C>T | NP_001373232.1:p.Leu297= | |
| NM_001386304.1:c.787C>T | NP_001373233.1:p.Leu263= | |
| NM_001386305.1:c.763-12C>T | NP_001373234.1:n.763-12C>T | |
| NM_001386306.1:c.592C>T | NP_001373235.1:p.Leu198= |