Linked Data
ClinVar Variation Id:
2949400
ClinVar RCV Id:
RCV003804566
dbSNP Id:
rs777245080
ExAC:
2:20113947 C / T
gnomAD v2:
2-20113947-C-T
gnomAD v4:
2-19914186-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19914186C>T , CM000664.2:g.19914186C>T | GRCh38 |
| NC_000002.11:g.20113947C>T , CM000664.1:g.20113947C>T | GRCh37 |
| NC_000002.10:g.19977428C>T | NCBI36 |
| NG_021212.1:g.80938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3213G>A MANE Select | ENSP00000281405.5:p.Gly1071= | |
| ENST00000345530.8:c.3246G>A MANE Plus Clinical | ENSP00000314444.5:p.Gly1082= | |
| ENST00000281405.8:c.3213G>A | ENSP00000281405.4:p.Gly1071= | |
| ENST00000345530.7:c.3246G>A | ENSP00000314444.5:p.Gly1082= | |
| ENST00000414212.5:c.*528G>A | ENSP00000390802.1:n.*528G>A | |
| ENST00000445063.5:c.2322-478G>A | ||
| NM_001006657.1:c.3246G>A | NP_001006658.1:p.Gly1082= | |
| NM_020779.3:c.3213G>A | NP_065830.2:p.Gly1071= | |
| XM_011533007.1:c.1941G>A | XP_011531309.1:p.Gly647= | |
| XM_011533007.2:c.1941G>A | XP_011531309.1:p.Gly647= | |
| XR_426989.3:n.3146G>A | ||
| NM_001006657.2:c.3246G>A MANE Plus Clinical | NP_001006658.1:p.Gly1082= | |
| NM_020779.4:c.3213G>A MANE Select | NP_065830.2:p.Gly1071= |