HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872949C>A , CM000671.2:g.130872949C>A | GRCh38 |
NC_000009.11:g.133748336C>A , CM000671.1:g.133748336C>A | GRCh37 |
NC_000009.10:g.132738157C>A | NCBI36 |
NG_012034.1:g.164069C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.1054C>A | ENSP00000361423.2:p.Gln352Lys | |
ENST00000318560.6:c.997C>A MANE Select | ENSP00000323315.5:p.Gln333Lys | |
ENST00000372348.7:c.1054C>A | ENSP00000361423.2:p.Gln352Lys | |
ENST00000318560.5:c.997C>A | ENSP00000323315.5:p.Gln333Lys | |
ENST00000372348.6:c.1054C>A | ENSP00000361423.2:p.Gln352Lys | |
NM_005157.5:c.997C>A | NP_005148.2:p.Gln333Lys | |
NM_007313.2:c.1054C>A | NP_009297.2:p.Gln352Lys | |
NM_005157.6:c.997C>A MANE Select | NP_005148.2:p.Gln333Lys | |
NM_007313.3:c.1054C>A | NP_009297.2:p.Gln352Lys |