HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130873006G>A , CM000671.2:g.130873006G>A | GRCh38 |
NC_000009.11:g.133748393G>A , CM000671.1:g.133748393G>A | GRCh37 |
NC_000009.10:g.132738214G>A | NCBI36 |
NG_012034.1:g.164126G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.1111G>A | ENSP00000361423.2:p.Glu371Lys | |
ENST00000318560.6:c.1054G>A MANE Select | ENSP00000323315.5:p.Glu352Lys | |
ENST00000372348.7:c.1111G>A | ENSP00000361423.2:p.Glu371Lys | |
ENST00000318560.5:c.1054G>A | ENSP00000323315.5:p.Glu352Lys | |
ENST00000372348.6:c.1111G>A | ENSP00000361423.2:p.Glu371Lys | |
NM_005157.5:c.1054G>A | NP_005148.2:p.Glu352Lys | |
NM_007313.2:c.1111G>A | NP_009297.2:p.Glu371Lys | |
NM_005157.6:c.1054G>A MANE Select | NP_005148.2:p.Glu352Lys | |
NM_007313.3:c.1111G>A | NP_009297.2:p.Glu371Lys |