HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872872G>A , CM000671.2:g.130872872G>A | GRCh38 |
NC_000009.11:g.133748259G>A , CM000671.1:g.133748259G>A | GRCh37 |
NC_000009.10:g.132738080G>A | NCBI36 |
NG_012034.1:g.163992G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.977G>A | ENSP00000361423.2:p.Arg326Gln | |
ENST00000318560.6:c.920G>A MANE Select | ENSP00000323315.5:p.Arg307Gln | |
ENST00000372348.7:c.977G>A | ENSP00000361423.2:p.Arg326Gln | |
ENST00000318560.5:c.920G>A | ENSP00000323315.5:p.Arg307Gln | |
ENST00000372348.6:c.977G>A | ENSP00000361423.2:p.Arg326Gln | |
NM_005157.5:c.920G>A | NP_005148.2:p.Arg307Gln | |
NM_007313.2:c.977G>A | NP_009297.2:p.Arg326Gln | |
NM_005157.6:c.920G>A MANE Select | NP_005148.2:p.Arg307Gln | |
NM_007313.3:c.977G>A | NP_009297.2:p.Arg326Gln |