Linked Data
ClinVar Variation Id:
2908996
ClinVar RCV Id:
RCV003740906
dbSNP Id:
rs1201985530
gnomAD v2:
19-6495789-G-A
gnomAD v4:
19-6495778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6495778G>A , CM000681.2:g.6495778G>A | GRCh38 |
| NC_000019.9:g.6495789G>A , CM000681.1:g.6495789G>A | GRCh37 |
| NC_000019.8:g.6446789G>A | NCBI36 |
| NG_033896.1:g.12071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264071.7:c.721C>T MANE Select | ENSP00000264071.1:p.Arg241Cys | |
| ENST00000264071.6:c.721C>T | ENSP00000264071.1:p.Arg241Cys | |
| ENST00000540257.5:c.721C>T | ENSP00000443590.1:p.Arg241Cys | |
| ENST00000594276.5:c.409C>T | ENSP00000472481.1:p.Arg137Cys | |
| NM_001289123.1:c.874C>T | NP_001276052.1:p.Arg292Cys | |
| NM_001289127.1:c.856C>T | NP_001276056.1:p.Arg286Cys | |
| NM_001289129.1:c.721C>T | NP_001276058.1:p.Arg241Cys | |
| NM_001289130.1:c.505C>T | NP_001276059.1:p.Arg169Cys | |
| NM_001289131.1:c.505C>T | NP_001276060.1:p.Arg169Cys | |
| NM_006087.3:c.721C>T | NP_006078.2:p.Arg241Cys | |
| NM_006087.4:c.721C>T MANE Select | NP_006078.2:p.Arg241Cys | |
| NM_001289123.2:c.874C>T | NP_001276052.1:p.Arg292Cys | |
| NM_001289127.2:c.856C>T | NP_001276056.1:p.Arg286Cys | |
| NM_001289129.2:c.721C>T | NP_001276058.1:p.Arg241Cys | |
| NM_001289130.2:c.505C>T | NP_001276059.1:p.Arg169Cys | |
| NM_001289131.2:c.505C>T | NP_001276060.1:p.Arg169Cys |