Linked Data
ClinVar Variation Id:
16200
ClinVar RCV Id:
RCV000017584
dbSNP Id:
rs121909678
PubMed:
PMID:17110937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85551548C>T , CM000664.2:g.85551548C>T | GRCh38 |
| NC_000002.11:g.85778671C>T , CM000664.1:g.85778671C>T | GRCh37 |
| NC_000002.10:g.85632182C>T | NCBI36 |
| NG_011811.2:g.14987G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.6150G>A | ||
| ENST00000482662.2:n.4557G>A | ||
| ENST00000685865.1:n.2710G>A | ||
| ENST00000687250.1:n.2209G>A | ||
| ENST00000687995.1:n.2024G>A | ||
| ENST00000688205.1:c.*1265G>A | ENSP00000509673.1:n.*1265G>A | |
| ENST00000688788.1:n.1911G>A | ||
| ENST00000689276.1:c.1603G>A | ENSP00000510012.1:p.Gly535Arg | |
| ENST00000689576.1:c.*291G>A | ENSP00000508712.1:n.*291G>A | |
| ENST00000690108.1:c.*1328G>A | ENSP00000510617.1:n.*1328G>A | |
| ENST00000690468.1:c.*224G>A | ENSP00000509078.1:n.*224G>A | |
| ENST00000690595.1:c.997G>A | ENSP00000508979.1:p.Gly333Arg | |
| ENST00000691348.1:c.*224G>A | ENSP00000509369.1:n.*224G>A | |
| ENST00000691410.1:c.*1249G>A | ENSP00000508479.1:n.*1249G>A | |
| ENST00000693287.1:c.988G>A | ENSP00000510264.1:p.Gly330Arg | |
| ENST00000693354.1:n.182G>A | ||
| ENST00000693681.1:c.985G>A | ENSP00000510789.1:p.Gly329Arg | |
| ENST00000233838.9:c.1672G>A MANE Select | ENSP00000233838.3:p.Gly558Arg | |
| ENST00000233838.8:c.1672G>A | ENSP00000233838.3:p.Gly558Arg | |
| ENST00000430215.7:c.1501G>A | ENSP00000408045.3:p.Gly501Arg | |
| ENST00000465637.5:n.179-3544G>A | ||
| NM_000821.5:c.1672G>A | NP_000812.2:p.Gly558Arg | |
| NM_000821.6:c.1672G>A | NP_000812.2:p.Gly558Arg | |
| NM_001142269.2:c.1501G>A | NP_001135741.1:p.Gly501Arg | |
| NM_001142269.3:c.1501G>A | NP_001135741.1:p.Gly501Arg | |
| XM_005264259.3:c.1672G>A | XP_005264316.1:p.Gly558Arg | |
| XM_011532764.1:c.850G>A | XP_011531066.1:p.Gly284Arg | |
| XM_011532765.1:c.850G>A | XP_011531067.1:p.Gly284Arg | |
| XR_939677.1:n.1585G>A | ||
| XM_005264259.5:c.1672G>A | XP_005264316.1:p.Gly558Arg | |
| XM_011532764.3:c.850G>A | XP_011531066.1:p.Gly284Arg | |
| XM_011532765.3:c.850G>A | XP_011531067.1:p.Gly284Arg | |
| XM_017003803.2:c.1501G>A | XP_016859292.1:p.Gly501Arg | |
| XR_001738703.2:n.1585G>A | ||
| NM_000821.7:c.1672G>A MANE Select | NP_000812.2:p.Gly558Arg | |
| NM_001142269.4:c.1501G>A | NP_001135741.1:p.Gly501Arg |