Linked Data
ClinVar Variation Id:
16195
ClinVar RCV Id:
RCV000017579
dbSNP Id:
rs28928872
PubMed:
PMID:11071668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85551919C>G , CM000664.2:g.85551919C>G | GRCh38 |
| NC_000002.11:g.85779042C>G , CM000664.1:g.85779042C>G | GRCh37 |
| NC_000002.10:g.85632553C>G | NCBI36 |
| NG_011811.2:g.14616G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5980G>C | ||
| ENST00000482662.2:n.4387G>C | ||
| ENST00000685865.1:n.2339G>C | ||
| ENST00000687250.1:n.2039G>C | ||
| ENST00000687995.1:n.1854G>C | ||
| ENST00000688205.1:c.*1095G>C | ENSP00000509673.1:n.*1095G>C | |
| ENST00000688788.1:n.1741G>C | ||
| ENST00000689276.1:c.1433G>C | ENSP00000510012.1:p.Trp478Ser | |
| ENST00000689576.1:c.*121G>C | ENSP00000508712.1:n.*121G>C | |
| ENST00000690108.1:c.*1158G>C | ENSP00000510617.1:n.*1158G>C | |
| ENST00000690468.1:c.*54G>C | ENSP00000509078.1:n.*54G>C | |
| ENST00000690595.1:c.827G>C | ENSP00000508979.1:p.Trp276Ser | |
| ENST00000691348.1:c.*54G>C | ENSP00000509369.1:n.*54G>C | |
| ENST00000691410.1:c.*1079G>C | ENSP00000508479.1:n.*1079G>C | |
| ENST00000693287.1:c.818G>C | ENSP00000510264.1:p.Trp273Ser | |
| ENST00000693681.1:c.815G>C | ENSP00000510789.1:p.Trp272Ser | |
| ENST00000233838.9:c.1502G>C MANE Select | ENSP00000233838.3:p.Trp501Ser | |
| ENST00000233838.8:c.1502G>C | ENSP00000233838.3:p.Trp501Ser | |
| ENST00000430215.7:c.1331G>C | ENSP00000408045.3:p.Trp444Ser | |
| ENST00000465637.5:n.179-3915G>C | ||
| NM_000821.5:c.1502G>C | NP_000812.2:p.Trp501Ser | |
| NM_000821.6:c.1502G>C | NP_000812.2:p.Trp501Ser | |
| NM_001142269.2:c.1331G>C | NP_001135741.1:p.Trp444Ser | |
| NM_001142269.3:c.1331G>C | NP_001135741.1:p.Trp444Ser | |
| XM_005264259.3:c.1502G>C | XP_005264316.1:p.Trp501Ser | |
| XM_011532764.1:c.680G>C | XP_011531066.1:p.Trp227Ser | |
| XM_011532765.1:c.680G>C | XP_011531067.1:p.Trp227Ser | |
| XR_939677.1:n.1415G>C | ||
| XM_005264259.5:c.1502G>C | XP_005264316.1:p.Trp501Ser | |
| XM_011532764.3:c.680G>C | XP_011531066.1:p.Trp227Ser | |
| XM_011532765.3:c.680G>C | XP_011531067.1:p.Trp227Ser | |
| XM_017003803.2:c.1331G>C | XP_016859292.1:p.Trp444Ser | |
| XR_001738703.2:n.1415G>C | ||
| NM_000821.7:c.1502G>C MANE Select | NP_000812.2:p.Trp501Ser | |
| NM_001142269.4:c.1331G>C | NP_001135741.1:p.Trp444Ser |