Linked Data
ClinVar Variation Id:
293840
ClinVar RCV Id:
RCV000403071
dbSNP Id:
rs372524963
gnomAD v2:
1-173886454-C-T
gnomAD v3:
1-173917316-C-T
gnomAD v4:
1-173917316-C-T
ERepo:
CA10608400/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173917316C>T , CM000663.2:g.173917316C>T | GRCh38 |
| NC_000001.10:g.173886454C>T , CM000663.1:g.173886454C>T | GRCh37 |
| NC_000001.9:g.172153077C>T | NCBI36 |
| NG_012462.1:g.5063G>A , LRG_577:g.5063G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.-57G>A MANE Select | ENSP00000356671.3:n.-57G>A | |
| ENST00000367698.3:c.-57G>A | ENSP00000356671.3:n.-57G>A | |
| ENST00000494024.1:n.1G>A | ||
| ENST00000617423.4:c.-57G>A | ENSP00000478688.1:n.-57G>A | |
| NM_000488.3:c.-57G>A , LRG_577t1:c.-57G>A | NP_000479.1:n.-57G>A | |
| XM_005245198.2:c.-370G>A | XP_005245255.1:n.-370G>A | |
| NM_001365052.1:c.-370G>A | NP_001351981.1:n.-370G>A | |
| NM_000488.4:c.-57G>A MANE Select | NP_000479.1:n.-57G>A | |
| NM_001365052.2:c.-370G>A | NP_001351981.1:n.-370G>A | |
| NM_001386302.1:c.-57G>A | NP_001373231.1:n.-57G>A | |
| NM_001386303.1:c.-57G>A | NP_001373232.1:n.-57G>A | |
| NM_001386304.1:c.-57G>A | NP_001373233.1:n.-57G>A | |
| NM_001386305.1:c.-57G>A | NP_001373234.1:n.-57G>A | |
| NM_001386306.1:c.-57G>A | NP_001373235.1:n.-57G>A |