Linked Data
ClinVar Variation Id:
1498982
dbSNP Id:
rs200482214
gnomAD v3:
19-41348345-G-A
gnomAD v4:
19-41348345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41348345G>A , CM000681.2:g.41348345G>A | GRCh38 |
| NC_000019.9:g.41854250G>A , CM000681.1:g.41854250G>A | GRCh37 |
| NC_000019.8:g.46546090G>A | NCBI36 |
| NG_013364.1:g.10582C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.466C>T MANE Select | ENSP00000221930.4:p.Arg156Cys | |
| ENST00000600196.2:c.466C>T | ENSP00000504008.1:p.Arg156Cys | |
| ENST00000677934.1:c.466C>T | ENSP00000504769.1:p.Arg156Cys | |
| ENST00000221930.5:c.466C>T | ENSP00000221930.4:p.Arg156Cys | |
| NM_000660.5:c.466C>T | NP_000651.3:p.Arg156Cys | |
| XM_011527242.1:c.466C>T | XP_011525544.1:p.Arg156Cys | |
| NM_000660.6:c.466C>T | NP_000651.3:p.Arg156Cys | |
| XM_011527242.2:c.466C>T | XP_011525544.1:p.Arg156Cys | |
| NM_000660.7:c.466C>T MANE Select | NP_000651.3:p.Arg156Cys |