Linked Data
ClinVar Variation Id:
453066
dbSNP Id:
rs1244525711
gnomAD v2:
19-6364615-C-T
gnomAD v3:
19-6364604-C-T
gnomAD v4:
19-6364604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6364604C>T , CM000681.2:g.6364604C>T | GRCh38 |
| NC_000019.9:g.6364615C>T , CM000681.1:g.6364615C>T | GRCh37 |
| NC_000019.8:g.6315615C>T | NCBI36 |
| NG_033887.1:g.8153C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245816.11:c.520C>T MANE Select | ENSP00000245816.3:p.Arg174Cys | |
| ENST00000596605.2:c.151-1654C>T | ||
| ENST00000597326.6:c.331C>T | ||
| ENST00000646643.1:c.37C>T | ENSP00000494298.1:p.Arg13Cys | |
| ENST00000245816.8:c.520C>T | ENSP00000245816.3:p.Arg174Cys | |
| ENST00000594780.1:n.421C>T | ||
| ENST00000596070.1:n.1035C>T | ||
| ENST00000596149.5:c.259C>T | ENSP00000472227.1:p.Arg87Cys | |
| ENST00000596605.1:c.107-1654C>T | ENSP00000469124.1:n.107-1654C>T | |
| ENST00000597326.5:c.331C>T | ENSP00000470098.1:p.Arg111Cys | |
| NM_006012.2:c.520C>T | NP_006003.1:p.Arg174Cys | |
| NM_006012.3:c.520C>T | NP_006003.1:p.Arg174Cys | |
| NM_006012.4:c.520C>T MANE Select | NP_006003.1:p.Arg174Cys |