Linked Data
ClinVar Variation Id:
16202
ClinVar RCV Id:
RCV000017586
dbSNP Id:
rs121909680
PubMed:
PMID:17110937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553267G>A , CM000664.2:g.85553267G>A | GRCh38 |
| NC_000002.11:g.85780390G>A , CM000664.1:g.85780390G>A | GRCh37 |
| NC_000002.10:g.85633901G>A | NCBI36 |
| NG_011811.2:g.13268C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.5164C>T | ||
| ENST00000482662.2:n.3571C>T | ||
| ENST00000685865.1:n.1523C>T | ||
| ENST00000687250.1:n.1223C>T | ||
| ENST00000687995.1:n.1472C>T | ||
| ENST00000688205.1:c.*713C>T | ENSP00000509673.1:n.*713C>T | |
| ENST00000688788.1:n.1359C>T | ||
| ENST00000689276.1:c.1051C>T | ENSP00000510012.1:p.Gln351Ter | |
| ENST00000689576.1:c.1120C>T | ENSP00000508712.1:p.Gln374Ter | |
| ENST00000690108.1:c.*776C>T | ENSP00000510617.1:n.*776C>T | |
| ENST00000690468.1:c.841C>T | ENSP00000509078.1:p.Gln281Ter | |
| ENST00000690595.1:c.445C>T | ENSP00000508979.1:p.Gln149Ter | |
| ENST00000691348.1:c.949C>T | ENSP00000509369.1:p.Gln317Ter | |
| ENST00000691410.1:c.*697C>T | ENSP00000508479.1:n.*697C>T | |
| ENST00000693287.1:c.436C>T | ENSP00000510264.1:p.Gln146Ter | |
| ENST00000693681.1:c.433C>T | ENSP00000510789.1:p.Gln145Ter | |
| ENST00000233838.9:c.1120C>T MANE Select | ENSP00000233838.3:p.Gln374Ter | |
| ENST00000233838.8:c.1120C>T | ENSP00000233838.3:p.Gln374Ter | |
| ENST00000430215.7:c.949C>T | ENSP00000408045.3:p.Gln317Ter | |
| ENST00000465637.5:n.179-5263C>T | ||
| ENST00000473665.1:n.613C>T | ||
| ENST00000482662.1:n.537C>T | ||
| NM_000821.5:c.1120C>T | NP_000812.2:p.Gln374Ter | |
| NM_000821.6:c.1120C>T | NP_000812.2:p.Gln374Ter | |
| NM_001142269.2:c.949C>T | NP_001135741.1:p.Gln317Ter | |
| NM_001142269.3:c.949C>T | NP_001135741.1:p.Gln317Ter | |
| XM_005264259.3:c.1120C>T | XP_005264316.1:p.Gln374Ter | |
| XM_011532764.1:c.298C>T | XP_011531066.1:p.Gln100Ter | |
| XM_011532765.1:c.298C>T | XP_011531067.1:p.Gln100Ter | |
| XR_939677.1:n.1185C>T | ||
| XM_005264259.5:c.1120C>T | XP_005264316.1:p.Gln374Ter | |
| XM_011532764.3:c.298C>T | XP_011531066.1:p.Gln100Ter | |
| XM_011532765.3:c.298C>T | XP_011531067.1:p.Gln100Ter | |
| XM_017003803.2:c.949C>T | XP_016859292.1:p.Gln317Ter | |
| XR_001738703.2:n.1185C>T | ||
| NM_000821.7:c.1120C>T MANE Select | NP_000812.2:p.Gln374Ter | |
| NM_001142269.4:c.949C>T | NP_001135741.1:p.Gln317Ter |