HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872927C>T , CM000671.2:g.130872927C>T | GRCh38 |
NC_000009.11:g.133748314C>T , CM000671.1:g.133748314C>T | GRCh37 |
NC_000009.10:g.132738135C>T | NCBI36 |
NG_012034.1:g.164047C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.1032C>T | ENSP00000361423.2:p.Asp344= | |
ENST00000318560.6:c.975C>T MANE Select | ENSP00000323315.5:p.Asp325= | |
ENST00000372348.7:c.1032C>T | ENSP00000361423.2:p.Asp344= | |
ENST00000318560.5:c.975C>T | ENSP00000323315.5:p.Asp325= | |
ENST00000372348.6:c.1032C>T | ENSP00000361423.2:p.Asp344= | |
NM_005157.5:c.975C>T | NP_005148.2:p.Asp325= | |
NM_007313.2:c.1032C>T | NP_009297.2:p.Asp344= | |
NM_005157.6:c.975C>T MANE Select | NP_005148.2:p.Asp325= | |
NM_007313.3:c.1032C>T | NP_009297.2:p.Asp344= |