Linked Data
ClinVar Variation Id:
2108
ClinVar RCV Id:
RCV000002189
dbSNP Id:
rs121918333
gnomAD v2:
12-116406902-T-C
gnomAD v3:
12-115969097-T-C
gnomAD v4:
12-115969097-T-C
COSMIC:
COSM4951070
PubMed:
PMID:14638541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115969097T>C , CM000674.2:g.115969097T>C | GRCh38 |
| NC_000012.11:g.116406902T>C , CM000674.1:g.116406902T>C | GRCh37 |
| NC_000012.10:g.114891285T>C | NCBI36 |
| NG_023366.1:g.313090A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.6068A>G MANE Select | ENSP00000281928.3:p.Asp2023Gly | |
| ENST00000548784.2:n.2282A>G | ||
| ENST00000648379.1:n.4436A>G | ||
| ENST00000648737.1:n.5832A>G | ||
| ENST00000648825.1:n.4253A>G | ||
| ENST00000648916.1:n.4079A>G | ||
| ENST00000649607.1:c.4252A>G | ||
| ENST00000649775.1:c.2556+1497A>G | ||
| ENST00000650226.1:c.6104A>G | ENSP00000496981.1:p.Asp2035Gly | |
| ENST00000281928.7:c.6068A>G | ENSP00000281928.3:p.Asp2023Gly | |
| NM_015335.4:c.6068A>G | NP_056150.1:p.Asp2023Gly | |
| XM_011538080.1:c.6104A>G | XP_011536382.1:p.Asp2035Gly | |
| XM_011538081.1:c.6101A>G | XP_011536383.1:p.Asp2034Gly | |
| XM_011538082.1:c.6074A>G | XP_011536384.1:p.Asp2025Gly | |
| XM_011538080.2:c.6104A>G | XP_011536382.1:p.Asp2035Gly | |
| XM_011538081.2:c.6101A>G | XP_011536383.1:p.Asp2034Gly | |
| XM_011538082.2:c.6074A>G | XP_011536384.1:p.Asp2025Gly | |
| XM_017019090.1:c.6065A>G | XP_016874579.1:p.Asp2022Gly | |
| NM_015335.5:c.6068A>G MANE Select | NP_056150.1:p.Asp2023Gly |