Linked Data
dbSNP Id:
rs757315738
ExAC:
9:139581655 T / C
gnomAD v2:
9-139581655-T-C
gnomAD v4:
9-136687203-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687203T>C , CM000671.2:g.136687203T>C | GRCh38 |
| NC_000009.11:g.139581655T>C , CM000671.1:g.139581655T>C | GRCh37 |
| NC_000009.10:g.138701476T>C | NCBI36 |
| NG_008090.1:g.5257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.155A>G MANE Select | ENSP00000360761.2:p.His52Arg | |
| ENST00000371694.7:c.155A>G | ENSP00000360759.3:p.His52Arg | |
| ENST00000371696.6:c.155A>G | ENSP00000360761.2:p.His52Arg | |
| ENST00000470861.1:n.163A>G | ||
| ENST00000538402.1:c.155A>G | ENSP00000438919.1:p.His52Arg | |
| NM_001012727.1:c.155A>G | NP_001012745.1:p.His52Arg | |
| NM_006412.3:c.155A>G | NP_006403.2:p.His52Arg | |
| NM_006412.4:c.155A>G MANE Select | NP_006403.2:p.His52Arg | |
| NM_001012727.2:c.155A>G | NP_001012745.1:p.His52Arg |