Linked Data
ClinVar Variation Id:
437274
dbSNP Id:
rs201207790
ExAC:
2:20131020 G / T
gnomAD v2:
2-20131020-G-T
gnomAD v3:
2-19931259-G-T
gnomAD v4:
2-19931259-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19931259G>T , CM000664.2:g.19931259G>T | GRCh38 |
| NC_000002.11:g.20131020G>T , CM000664.1:g.20131020G>T | GRCh37 |
| NC_000002.10:g.19994501G>T | NCBI36 |
| NG_021212.1:g.63865C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2964+10C>A MANE Select | ENSP00000281405.5:n.2964+10C>A | |
| ENST00000345530.8:c.2997+10C>A MANE Plus Clinical | ENSP00000314444.5:n.2997+10C>A | |
| ENST00000281405.8:c.2964+10C>A | ENSP00000281405.4:n.2964+10C>A | |
| ENST00000345530.7:c.2997+10C>A | ENSP00000314444.5:n.2997+10C>A | |
| ENST00000414212.5:c.*279+10C>A | ENSP00000390802.1:n.*279+10C>A | |
| ENST00000445063.5:c.2164+10C>A | ||
| NM_001006657.1:c.2997+10C>A | NP_001006658.1:n.2997+10C>A | |
| NM_020779.3:c.2964+10C>A | NP_065830.2:n.2964+10C>A | |
| XM_011533007.1:c.1692+10C>A | XP_011531309.1:n.1692+10C>A | |
| XR_426989.2:n.2897+10C>A | ||
| XM_011533007.2:c.1692+10C>A | XP_011531309.1:n.1692+10C>A | |
| XR_426989.3:n.2897+10C>A | ||
| NM_001006657.2:c.2997+10C>A MANE Plus Clinical | NP_001006658.1:n.2997+10C>A | |
| NM_020779.4:c.2964+10C>A MANE Select | NP_065830.2:n.2964+10C>A |