Linked Data
ClinVar Variation Id:
45890
ClinVar RCV Id:
RCV000039123
RCV000283099
RCV000377652
RCV000755905
RCV001275938
RCV001197523
RCV004534824
dbSNP Id:
rs200649500
ExAC:
10:73453966 C / T
gnomAD v2:
10-73453966-C-T
gnomAD v3:
10-71694209-C-T
gnomAD v4:
10-71694209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71694209C>T , CM000672.2:g.71694209C>T | GRCh38 |
| NC_000010.10:g.73453966C>T , CM000672.1:g.73453966C>T | GRCh37 |
| NC_000010.9:g.73123972C>T | NCBI36 |
| NG_008835.1:g.302263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.2239C>T MANE Select | ENSP00000224721.9:p.Arg747Cys | |
| ENST00000398809.9:c.2239C>T | ENSP00000381789.5:p.Arg747Cys | |
| ENST00000442677.4:c.2239C>T | ENSP00000388894.3:p.Arg747Cys | |
| ENST00000466757.8:c.1670C>T | ||
| ENST00000224721.10:c.2254C>T | ENSP00000224721.8:p.Arg752Cys | |
| ENST00000299366.11:c.2239C>T | ENSP00000299366.8:p.Arg747Cys | |
| ENST00000398809.8:c.2239C>T | ENSP00000381789.5:p.Arg747Cys | |
| ENST00000442677.3:c.1014C>T | ||
| ENST00000466757.7:c.1670C>T | ||
| ENST00000616684.4:c.2239C>T | ENSP00000482036.2:p.Arg747Cys | |
| ENST00000622827.4:c.2239C>T | ENSP00000483211.1:p.Arg747Cys | |
| NM_001171930.1:c.2239C>T | NP_001165401.1:p.Arg747Cys | |
| NM_001171931.1:c.2239C>T | NP_001165402.1:p.Arg747Cys | |
| NM_022124.5:c.2239C>T | NP_071407.4:p.Arg747Cys | |
| XM_006717940.2:c.2434C>T | XP_006718003.1:p.Arg812Cys | |
| XM_006717942.2:c.2368C>T | XP_006718005.1:p.Arg790Cys | |
| XM_011540039.1:c.2434C>T | XP_011538341.1:p.Arg812Cys | |
| XM_011540040.1:c.2428C>T | XP_011538342.1:p.Arg810Cys | |
| XM_011540041.1:c.2374C>T | XP_011538343.1:p.Arg792Cys | |
| XM_011540042.1:c.2434C>T | XP_011538344.1:p.Arg812Cys | |
| XM_011540043.1:c.2434C>T | XP_011538345.1:p.Arg812Cys | |
| XM_011540044.1:c.2299C>T | XP_011538346.1:p.Arg767Cys | |
| XM_011540045.1:c.2434C>T | XP_011538347.1:p.Arg812Cys | |
| XM_011540046.1:c.1894C>T | XP_011538348.1:p.Arg632Cys | |
| XM_011540047.1:c.1252C>T | XP_011538349.1:p.Arg418Cys | |
| XM_011540048.1:c.2434C>T | XP_011538350.1:p.Arg812Cys | |
| XM_011540049.1:c.2434C>T | XP_011538351.1:p.Arg812Cys | |
| XM_011540050.1:c.2434C>T | XP_011538352.1:p.Arg812Cys | |
| XM_011540051.1:c.2434C>T | XP_011538353.1:p.Arg812Cys | |
| XM_011540053.1:c.2434C>T | XP_011538355.1:p.Arg812Cys | |
| XM_011540054.1:c.2374C>T | XP_011538356.1:p.Arg792Cys | |
| XR_945796.1:n.2677C>T | ||
| NM_001171930.2:c.2239C>T | NP_001165401.1:p.Arg747Cys | |
| NM_001171931.2:c.2239C>T | NP_001165402.1:p.Arg747Cys | |
| NM_022124.6:c.2239C>T MANE Select | NP_071407.4:p.Arg747Cys |