Linked Data
ClinVar Variation Id:
2142179
ClinVar RCV Id:
RCV003076250
dbSNP Id:
rs762889922
ExAC:
3:50380358 G / A
gnomAD v2:
3-50380358-G-A
gnomAD v3:
3-50342927-G-A
gnomAD v4:
3-50342927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342927G>A , CM000665.2:g.50342927G>A | GRCh38 |
| NC_000003.11:g.50380358G>A , CM000665.1:g.50380358G>A | GRCh37 |
| NC_000003.10:g.50355362G>A | NCBI36 |
| NG_023270.1:g.3010C>T | |
| NG_042828.1:g.7820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.691C>T MANE Select | ENSP00000231749.3:p.Arg231Trp | |
| ENST00000231749.7:c.691C>T | ENSP00000231749.3:p.Arg231Trp | |
| ENST00000360165.7:c.599+191C>T | ENSP00000353289.3:n.599+191C>T | |
| ENST00000442887.1:c.562C>T | ENSP00000393687.1:p.Arg188Trp | |
| ENST00000443080.5:c.*443C>T | ENSP00000415661.1:n.*443C>T | |
| ENST00000475688.1:n.242C>T | ||
| NM_001308379.1:c.599+191C>T | NP_001295308.1:n.599+191C>T | |
| NM_015896.2:c.691C>T | NP_056980.2:p.Arg231Trp | |
| NM_015896.3:c.691C>T | NP_056980.2:p.Arg231Trp | |
| XM_005265216.2:c.454C>T | XP_005265273.1:p.Arg152Trp | |
| XM_005265216.3:c.454C>T | XP_005265273.1:p.Arg152Trp | |
| NM_015896.4:c.691C>T MANE Select | NP_056980.2:p.Arg231Trp | |
| NM_001308379.2:c.599+191C>T | NP_001295308.1:n.599+191C>T |