HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136673843T>C , CM000671.2:g.136673843T>C | GRCh38 |
NC_000009.11:g.139568295T>C , CM000671.1:g.139568295T>C | GRCh37 |
NC_000009.10:g.138688116T>C | NCBI36 |
NG_008090.1:g.18617A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371696.7:c.746A>G MANE Select | ENSP00000360761.2:p.His249Arg | |
ENST00000371694.7:c.650A>G | ENSP00000360759.3:p.His217Arg | |
ENST00000371696.6:c.746A>G | ENSP00000360761.2:p.His249Arg | |
ENST00000472820.1:n.674A>G | ||
ENST00000538402.1:c.746A>G | ENSP00000438919.1:p.His249Arg | |
NM_001012727.1:c.650A>G | NP_001012745.1:p.His217Arg | |
NM_006412.3:c.746A>G | NP_006403.2:p.His249Arg | |
NM_006412.4:c.746A>G MANE Select | NP_006403.2:p.His249Arg | |
NM_001012727.2:c.650A>G | NP_001012745.1:p.His217Arg |