Linked Data
dbSNP Id:
rs1253425446
gnomAD v2:
6-31238892-G-A
gnomAD v3:
6-31271115-G-A
gnomAD v4:
6-31271115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271115G>A , CM000668.2:g.31271115G>A | GRCh38 |
| NC_000006.11:g.31238892G>A , CM000668.1:g.31238892G>A | GRCh37 |
| NC_000006.10:g.31346871G>A | NCBI36 |
| NG_029422.2:g.6017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.577C>T MANE Select | ENSP00000365402.5:p.Arg193Cys | |
| ENST00000376228.9:c.577C>T | ENSP00000365402.5:p.Arg193Cys | |
| ENST00000376237.8:c.*164C>T | ENSP00000365412.4:n.*164C>T | |
| ENST00000383329.7:c.577C>T | ENSP00000372819.3:p.Arg193Cys | |
| ENST00000415537.1:c.575C>T | ||
| ENST00000484378.1:n.846C>T | ||
| ENST00000487245.5:n.936C>T | ||
| ENST00000495835.1:n.766C>T | ||
| NM_002117.5:c.577C>T | NP_002108.4:p.Arg193Cys | |
| NM_002117.6:c.577C>T MANE Select | NP_002108.4:p.Arg193Cys |