Linked Data
ClinVar Variation Id:
1315298
dbSNP Id:
rs370510563
ExAC:
4:122775927 G / A
gnomAD v2:
4-122775927-G-A
gnomAD v3:
4-121854772-G-A
gnomAD v4:
4-121854772-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854772G>A , CM000666.2:g.121854772G>A | GRCh38 |
| NC_000004.11:g.122775927G>A , CM000666.1:g.122775927G>A | GRCh37 |
| NC_000004.10:g.122995377G>A | NCBI36 |
| NG_009111.1:g.20716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.650C>T MANE Select | ENSP00000264499.4:p.Ala217Val | |
| ENST00000264499.8:c.650C>T | ENSP00000264499.4:p.Ala217Val | |
| ENST00000506636.1:c.650C>T | ENSP00000423626.1:p.Ala217Val | |
| NM_018190.3:c.650C>T | NP_060660.2:p.Ala217Val | |
| NM_176824.2:c.650C>T | NP_789794.1:p.Ala217Val | |
| XM_005263106.2:c.653C>T | XP_005263163.1:p.Ala218Val | |
| XM_011532079.1:c.698C>T | XP_011530381.1:p.Ala233Val | |
| XM_011532080.1:c.695C>T | XP_011530382.1:p.Ala232Val | |
| XM_011532081.1:c.698C>T | XP_011530383.1:p.Ala233Val | |
| XM_005263106.4:c.653C>T | XP_005263163.1:p.Ala218Val | |
| XM_011532079.3:c.698C>T | XP_011530381.1:p.Ala233Val | |
| XM_011532080.3:c.695C>T | XP_011530382.1:p.Ala232Val | |
| XM_011532081.3:c.698C>T | XP_011530383.1:p.Ala233Val | |
| XM_017008357.2:c.650C>T | XP_016863846.1:p.Ala217Val | |
| XM_017008358.2:c.653C>T | XP_016863847.1:p.Ala218Val | |
| NM_176824.3:c.650C>T MANE Select | NP_789794.1:p.Ala217Val | |
| NM_018190.4:c.650C>T | NP_060660.2:p.Ala217Val |