Linked Data
ClinVar Variation Id:
3011861
ClinVar RCV Id:
RCV003872924
dbSNP Id:
rs377156559
ExAC:
11:118373196 C / T
gnomAD v2:
11-118373196-C-T
gnomAD v3:
11-118502481-C-T
gnomAD v4:
11-118502481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118502481C>T , CM000673.2:g.118502481C>T | GRCh38 |
| NC_000011.9:g.118373196C>T , CM000673.1:g.118373196C>T | GRCh37 |
| NC_000011.8:g.117878406C>T | NCBI36 |
| NG_027813.1:g.70992C>T , LRG_613:g.70992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.6688C>T | ENSP00000432391.3:p.Arg2230Cys | |
| ENST00000710560.1:c.6679C>T | ENSP00000518343.1:p.Arg2227Cys | |
| ENST00000649878.2:c.628C>T | ENSP00000497891.2:p.Arg210Cys | |
| ENST00000685397.1:c.628C>T | ENSP00000509586.1:p.Arg210Cys | |
| ENST00000686370.1:c.628C>T | ENSP00000509179.1:p.Arg210Cys | |
| ENST00000689424.1:c.886C>T | ENSP00000509852.1:p.Arg296Cys | |
| ENST00000691053.1:c.6661C>T | ENSP00000509168.1:p.Arg2221Cys | |
| ENST00000389506.10:c.6580C>T | ENSP00000374157.5:p.Arg2194Cys | |
| ENST00000528278.2:n.5931C>T | ||
| ENST00000534358.8:c.6589C>T MANE Select | ENSP00000436786.2:p.Arg2197Cys | |
| ENST00000649699.1:c.6466C>T | ENSP00000496927.1:p.Arg2156Cys | |
| ENST00000389506.9:c.6580C>T | ENSP00000374157.5:p.Arg2194Cys | |
| ENST00000528278.1:n.716C>T | ||
| ENST00000534358.5:c.6589C>T | ENSP00000436786.1:p.Arg2197Cys | |
| NM_001197104.1:c.6589C>T , LRG_613t1:c.6589C>T | NP_001184033.1:p.Arg2197Cys | |
| NM_005933.3:c.6580C>T | NP_005924.2:p.Arg2194Cys | |
| XM_006718839.2:c.4072C>T | XP_006718902.2:p.Arg1358Cys | |
| XM_011542829.1:c.6688C>T | XP_011541131.1:p.Arg2230Cys | |
| XM_011542830.1:c.6685C>T | XP_011541132.1:p.Arg2229Cys | |
| XM_011542831.1:c.6679C>T | XP_011541133.1:p.Arg2227Cys | |
| XM_011542832.1:c.4495C>T | XP_011541134.1:p.Arg1499Cys | |
| XM_011542833.1:c.4171C>T | XP_011541135.1:p.Arg1391Cys | |
| XM_006718839.3:c.4072C>T | XP_006718902.2:p.Arg1358Cys | |
| XM_011542829.2:c.6688C>T | XP_011541131.1:p.Arg2230Cys | |
| XM_011542830.2:c.6685C>T | XP_011541132.1:p.Arg2229Cys | |
| XM_011542831.2:c.6679C>T | XP_011541133.1:p.Arg2227Cys | |
| XM_011542833.2:c.4171C>T | XP_011541135.1:p.Arg1391Cys | |
| NM_001197104.2:c.6589C>T MANE Select | NP_001184033.1:p.Arg2197Cys | |
| NM_005933.4:c.6580C>T | NP_005924.2:p.Arg2194Cys |