Linked Data
ClinVar Variation Id:
2594097
ClinVar RCV Id:
RCV004340074
dbSNP Id:
rs538445390
ExAC:
3:53265510 G / T
gnomAD v2:
3-53265510-G-T
gnomAD v3:
3-53231494-G-T
gnomAD v4:
3-53231494-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53231494G>T , CM000665.2:g.53231494G>T | GRCh38 |
| NC_000003.11:g.53265510G>T , CM000665.1:g.53265510G>T | GRCh37 |
| NC_000003.10:g.53240550G>T | NCBI36 |
| NG_027815.1:g.29621C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462138.6:c.805C>A MANE Select | ENSP00000417773.1:p.Gln269Lys | |
| ENST00000296289.10:c.307C>A | ENSP00000296289.7:p.Gln103Lys | |
| ENST00000423516.5:c.829C>A | ENSP00000391481.1:p.Gln277Lys | |
| ENST00000423525.6:c.805C>A | ENSP00000405455.2:p.Gln269Lys | |
| ENST00000450814.6:c.*233C>A | ENSP00000413503.2:n.*233C>A | |
| ENST00000460343.5:n.4114C>A | ||
| ENST00000461139.5:n.806C>A | ||
| ENST00000462138.5:c.805C>A | ENSP00000417773.1:p.Gln269Lys | |
| ENST00000469678.1:c.805C>A | ENSP00000418340.1:p.Gln269Lys | |
| ENST00000472528.5:c.*724C>A | ENSP00000417312.1:n.*724C>A | |
| ENST00000494523.2:n.1921C>A | ||
| NM_001064.3:c.805C>A | NP_001055.1:p.Gln269Lys | |
| NM_001135055.2:c.805C>A | NP_001128527.1:p.Gln269Lys | |
| NM_001258028.1:c.829C>A | NP_001244957.1:p.Gln277Lys | |
| NR_047580.1:n.867C>A | ||
| XM_011534054.1:c.829C>A | XP_011532356.1:p.Gln277Lys | |
| XM_011534055.1:c.307C>A | XP_011532357.1:p.Gln103Lys | |
| XM_011534055.2:c.307C>A | XP_011532357.1:p.Gln103Lys | |
| NM_001064.4:c.805C>A MANE Select | NP_001055.1:p.Gln269Lys | |
| NM_001135055.3:c.805C>A | NP_001128527.1:p.Gln269Lys | |
| NM_001258028.2:c.829C>A | NP_001244957.1:p.Gln277Lys | |
| NR_047580.2:n.775C>A |