Linked Data
ClinVar Variation Id:
2838560
dbSNP Id:
rs773223671
gnomAD v3:
2-214730507-C-G
gnomAD v4:
2-214730507-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730507C>G , CM000664.2:g.214730507C>G | GRCh38 |
| NC_000002.11:g.215595231C>G , CM000664.1:g.215595231C>G | GRCh37 |
| NC_000002.10:g.215303476C>G | NCBI36 |
| NG_012047.2:g.84198G>C | |
| NG_012047.3:g.84205G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1905G>C MANE Select | ENSP00000260947.4:p.Trp635Cys | |
| ENST00000421162.2:c.552G>C | ENSP00000392245.2:p.Trp184Cys | |
| ENST00000613192.2:c.160G>C | ENSP00000483275.2:p.Gly54Arg | |
| ENST00000613374.5:c.495G>C | ENSP00000484464.1:p.Trp165Cys | |
| ENST00000613706.5:c.1497G>C | ENSP00000484976.2:p.Trp499Cys | |
| ENST00000617164.5:c.1848G>C | ENSP00000480470.1:p.Trp616Cys | |
| ENST00000619009.5:c.366G>C | ENSP00000482293.1:p.Gly122= | |
| ENST00000650978.1:c.3280G>C | ||
| ENST00000260947.8:c.1905G>C | ENSP00000260947.4:p.Trp635Cys | |
| ENST00000421162.1:c.552G>C | ENSP00000392245.1:p.Trp184Cys | |
| ENST00000432456.5:c.2G>C | ||
| ENST00000455743.5:c.*1525G>C | ENSP00000412186.1:n.*1525G>C | |
| ENST00000471590.5:n.240G>C | ||
| ENST00000613192.1:c.75G>C | ENSP00000483275.1:p.Gly25= | |
| ENST00000613374.4:c.495G>C | ENSP00000484464.1:p.Trp165Cys | |
| ENST00000613706.4:c.552G>C | ENSP00000484976.1:p.Trp184Cys | |
| ENST00000617164.4:c.1848G>C | ENSP00000480470.1:p.Trp616Cys | |
| ENST00000619009.4:c.366G>C | ENSP00000482293.1:p.Gly122= | |
| ENST00000620057.4:c.*571G>C | ENSP00000481988.1:n.*571G>C | |
| NM_000465.3:c.1905G>C | NP_000456.2:p.Trp635Cys | |
| NM_001282543.1:c.1848G>C | NP_001269472.1:p.Trp616Cys | |
| NM_001282545.1:c.552G>C | NP_001269474.1:p.Trp184Cys | |
| NM_001282548.1:c.495G>C | NP_001269477.1:p.Trp165Cys | |
| NM_001282549.1:c.366G>C | NP_001269478.1:p.Gly122= | |
| NR_104212.1:n.1898G>C | ||
| NR_104215.1:n.1841G>C | ||
| NR_104216.1:n.1097G>C | ||
| XM_011511567.1:c.1851G>C | XP_011509869.1:p.Trp617Cys | |
| XM_017004613.1:c.2004G>C | XP_016860102.1:p.Trp668Cys | |
| XR_002959322.1:n.2095G>C | ||
| NM_000465.4:c.1905G>C MANE Select | NP_000456.2:p.Trp635Cys | |
| NM_001282543.2:c.1848G>C | NP_001269472.1:p.Trp616Cys | |
| NM_001282545.2:c.552G>C | NP_001269474.1:p.Trp184Cys | |
| NM_001282548.2:c.495G>C | NP_001269477.1:p.Trp165Cys | |
| NM_001282549.2:c.366G>C | NP_001269478.1:p.Gly122= | |
| NR_104212.2:n.1870G>C | ||
| NR_104215.2:n.1813G>C | ||
| NR_104216.2:n.1069G>C |