Linked Data
ClinVar Variation Id:
375691
dbSNP Id:
rs150832314
ExAC:
3:58517450 G / A
gnomAD v2:
3-58517450-G-A
gnomAD v3:
3-58531723-G-A
gnomAD v4:
3-58531723-G-A
PubMed:
PMID:27884763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58531723G>A , CM000665.2:g.58531723G>A | GRCh38 |
| NC_000003.11:g.58517450G>A , CM000665.1:g.58517450G>A | GRCh37 |
| NC_000003.10:g.58492490G>A | NCBI36 |
| NG_052668.1:g.10480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.673C>T MANE Select | ENSP00000307697.5:p.Arg225Trp | |
| ENST00000302819.9:c.673C>T | ENSP00000307697.5:p.Arg225Trp | |
| ENST00000459701.6:c.673C>T | ENSP00000418562.2:p.Arg225Trp | |
| ENST00000466810.5:n.471C>T | ||
| ENST00000489472.1:c.199C>T | ENSP00000418515.1:p.Arg67Trp | |
| ENST00000492530.1:c.502C>T | ||
| NM_003500.3:c.673C>T | NP_003491.1:p.Arg225Trp | |
| XM_005265505.1:c.673C>T | XP_005265562.1:p.Arg225Trp | |
| XM_005265506.2:c.463C>T | XP_005265563.1:p.Arg155Trp | |
| XM_006713340.2:c.379C>T | XP_006713403.1:p.Arg127Trp | |
| XM_011534147.1:c.838C>T | XP_011532449.1:p.Arg280Trp | |
| XM_011534148.1:c.379C>T | XP_011532450.1:p.Arg127Trp | |
| XM_006713340.3:c.379C>T | XP_006713403.1:p.Arg127Trp | |
| XM_017007302.2:c.463C>T | XP_016862791.1:p.Arg155Trp | |
| XM_024453786.1:c.463C>T | XP_024309554.1:p.Arg155Trp | |
| NM_003500.4:c.673C>T MANE Select | NP_003491.1:p.Arg225Trp |