Linked Data
ClinVar Variation Id:
92113
ClinVar RCV Id:
RCV000077785
dbSNP Id:
rs398123002
PubMed:
PMID:23109145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37749793G>T , CM000670.2:g.37749793G>T | GRCh38 |
| NC_000008.10:g.37607311G>T , CM000670.1:g.37607311G>T | GRCh37 |
| NC_000008.9:g.37726469G>T | NCBI36 |
| NG_032059.1:g.18215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519638.3:c.499-1G>T MANE Select | ENSP00000428112.1:n.499-1G>T | |
| ENST00000521993.3:n.428-1G>T | ||
| ENST00000276461.9:c.499-1G>T | ENSP00000276461.5:n.499-1G>T | |
| ENST00000518526.5:c.370-1G>T | ENSP00000429229.1:n.370-1G>T | |
| ENST00000519638.1:c.499-1G>T | ENSP00000428112.1:n.499-1G>T | |
| ENST00000521644.5:c.499-1G>T | ENSP00000429621.1:n.499-1G>T | |
| ENST00000521993.2:n.392-1G>T | ||
| NM_007175.6:c.499-1G>T | NP_009106.1:n.499-1G>T | |
| XM_005273392.1:c.499-1G>T | XP_005273449.1:n.499-1G>T | |
| XM_006716280.1:c.253-1G>T | XP_006716343.1:n.253-1G>T | |
| NM_001362878.1:c.499-1G>T | NP_001349807.1:n.499-1G>T | |
| NM_007175.7:c.499-1G>T | NP_009106.1:n.499-1G>T | |
| XM_005273392.3:c.499-1G>T | XP_005273449.1:n.499-1G>T | |
| XM_006716280.2:c.253-1G>T | XP_006716343.1:n.253-1G>T | |
| XM_024447058.1:c.499-1G>T | XP_024302826.1:n.499-1G>T | |
| NM_001362878.2:c.499-1G>T | NP_001349807.1:n.499-1G>T | |
| NM_007175.8:c.499-1G>T MANE Select | NP_009106.1:n.499-1G>T |