Linked Data
ClinVar Variation Id:
16206
dbSNP Id:
rs121909683
ExAC:
2:85781392 C / T
gnomAD v2:
2-85781392-C-T
gnomAD v3:
2-85554269-C-T
gnomAD v4:
2-85554269-C-T
PubMed:
PMID:18800149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85554269C>T , CM000664.2:g.85554269C>T | GRCh38 |
| NC_000002.11:g.85781392C>T , CM000664.1:g.85781392C>T | GRCh37 |
| NC_000002.10:g.85634903C>T | NCBI36 |
| NG_011811.2:g.12266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.4807G>A | ||
| ENST00000482662.2:n.2569G>A | ||
| ENST00000685865.1:n.1166G>A | ||
| ENST00000687250.1:n.866G>A | ||
| ENST00000687995.1:n.1115G>A | ||
| ENST00000688205.1:c.*356G>A | ENSP00000509673.1:n.*356G>A | |
| ENST00000688788.1:n.1129-772G>A | ||
| ENST00000689276.1:c.694G>A | ENSP00000510012.1:p.Val232Met | |
| ENST00000689576.1:c.763G>A | ENSP00000508712.1:p.Val255Met | |
| ENST00000690108.1:c.*419G>A | ENSP00000510617.1:n.*419G>A | |
| ENST00000690468.1:c.484G>A | ENSP00000509078.1:p.Val162Met | |
| ENST00000690595.1:c.215-772G>A | ENSP00000508979.1:n.215-772G>A | |
| ENST00000691348.1:c.592G>A | ENSP00000509369.1:p.Val198Met | |
| ENST00000691410.1:c.*340G>A | ENSP00000508479.1:n.*340G>A | |
| ENST00000693287.1:c.79G>A | ENSP00000510264.1:p.Val27Met | |
| ENST00000693681.1:c.203-772G>A | ENSP00000510789.1:n.203-772G>A | |
| ENST00000233838.9:c.763G>A MANE Select | ENSP00000233838.3:p.Val255Met | |
| ENST00000233838.8:c.763G>A | ENSP00000233838.3:p.Val255Met | |
| ENST00000430215.7:c.592G>A | ENSP00000408045.3:p.Val198Met | |
| ENST00000465637.5:n.178+4737G>A | ||
| ENST00000473665.1:n.256G>A | ||
| NM_000821.5:c.763G>A | NP_000812.2:p.Val255Met | |
| NM_000821.6:c.763G>A | NP_000812.2:p.Val255Met | |
| NM_001142269.2:c.592G>A | NP_001135741.1:p.Val198Met | |
| NM_001142269.3:c.592G>A | NP_001135741.1:p.Val198Met | |
| XM_005264259.3:c.763G>A | XP_005264316.1:p.Val255Met | |
| XM_011532764.1:c.68-772G>A | XP_011531066.1:n.68-772G>A | |
| XM_011532765.1:c.68-772G>A | XP_011531067.1:n.68-772G>A | |
| XR_939677.1:n.828G>A | ||
| XM_005264259.5:c.763G>A | XP_005264316.1:p.Val255Met | |
| XM_011532764.3:c.68-772G>A | XP_011531066.1:n.68-772G>A | |
| XM_011532765.3:c.68-772G>A | XP_011531067.1:n.68-772G>A | |
| XM_017003803.2:c.592G>A | XP_016859292.1:p.Val198Met | |
| XR_001738703.2:n.828G>A | ||
| NM_000821.7:c.763G>A MANE Select | NP_000812.2:p.Val255Met | |
| NM_001142269.4:c.592G>A | NP_001135741.1:p.Val198Met |