Linked Data
ClinVar Variation Id:
16201
ClinVar RCV Id:
RCV000017585
dbSNP Id:
rs121909679
gnomAD v4:
2-85551943-C-G
PubMed:
PMID:17110937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85551943C>G , CM000664.2:g.85551943C>G | GRCh38 |
| NC_000002.11:g.85779066C>G , CM000664.1:g.85779066C>G | GRCh37 |
| NC_000002.10:g.85632577C>G | NCBI36 |
| NG_011811.2:g.14592G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.5956G>C | ||
| ENST00000482662.2:n.4363G>C | ||
| ENST00000685865.1:n.2315G>C | ||
| ENST00000687250.1:n.2015G>C | ||
| ENST00000687995.1:n.1830G>C | ||
| ENST00000688205.1:c.*1071G>C | ENSP00000509673.1:n.*1071G>C | |
| ENST00000688788.1:n.1717G>C | ||
| ENST00000689276.1:c.1409G>C | ENSP00000510012.1:p.Trp470Ser | |
| ENST00000689576.1:c.*97G>C | ENSP00000508712.1:n.*97G>C | |
| ENST00000690108.1:c.*1134G>C | ENSP00000510617.1:n.*1134G>C | |
| ENST00000690468.1:c.*30G>C | ENSP00000509078.1:n.*30G>C | |
| ENST00000690595.1:c.803G>C | ENSP00000508979.1:p.Trp268Ser | |
| ENST00000691348.1:c.*30G>C | ENSP00000509369.1:n.*30G>C | |
| ENST00000691410.1:c.*1055G>C | ENSP00000508479.1:n.*1055G>C | |
| ENST00000693287.1:c.794G>C | ENSP00000510264.1:p.Trp265Ser | |
| ENST00000693681.1:c.791G>C | ENSP00000510789.1:p.Trp264Ser | |
| ENST00000233838.9:c.1478G>C MANE Select | ENSP00000233838.3:p.Trp493Ser | |
| ENST00000233838.8:c.1478G>C | ENSP00000233838.3:p.Trp493Ser | |
| ENST00000430215.7:c.1307G>C | ENSP00000408045.3:p.Trp436Ser | |
| ENST00000465637.5:n.179-3939G>C | ||
| NM_000821.5:c.1478G>C | NP_000812.2:p.Trp493Ser | |
| NM_000821.6:c.1478G>C | NP_000812.2:p.Trp493Ser | |
| NM_001142269.2:c.1307G>C | NP_001135741.1:p.Trp436Ser | |
| NM_001142269.3:c.1307G>C | NP_001135741.1:p.Trp436Ser | |
| XM_005264259.3:c.1478G>C | XP_005264316.1:p.Trp493Ser | |
| XM_011532764.1:c.656G>C | XP_011531066.1:p.Trp219Ser | |
| XM_011532765.1:c.656G>C | XP_011531067.1:p.Trp219Ser | |
| XR_939677.1:n.1391G>C | ||
| XM_005264259.5:c.1478G>C | XP_005264316.1:p.Trp493Ser | |
| XM_011532764.3:c.656G>C | XP_011531066.1:p.Trp219Ser | |
| XM_011532765.3:c.656G>C | XP_011531067.1:p.Trp219Ser | |
| XM_017003803.2:c.1307G>C | XP_016859292.1:p.Trp436Ser | |
| XR_001738703.2:n.1391G>C | ||
| NM_000821.7:c.1478G>C MANE Select | NP_000812.2:p.Trp493Ser | |
| NM_001142269.4:c.1307G>C | NP_001135741.1:p.Trp436Ser |