HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872207C>A , CM000671.2:g.130872207C>A | GRCh38 |
NC_000009.11:g.133747594C>A , CM000671.1:g.133747594C>A | GRCh37 |
NC_000009.10:g.132737415C>A | NCBI36 |
NG_012034.1:g.163327C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.958C>A | ENSP00000361423.2:p.Leu320Ile | |
ENST00000318560.6:c.901C>A MANE Select | ENSP00000323315.5:p.Leu301Ile | |
ENST00000372348.7:c.958C>A | ENSP00000361423.2:p.Leu320Ile | |
ENST00000318560.5:c.901C>A | ENSP00000323315.5:p.Leu301Ile | |
ENST00000372348.6:c.958C>A | ENSP00000361423.2:p.Leu320Ile | |
NM_005157.5:c.901C>A | NP_005148.2:p.Leu301Ile | |
NM_007313.2:c.958C>A | NP_009297.2:p.Leu320Ile | |
NM_005157.6:c.901C>A MANE Select | NP_005148.2:p.Leu301Ile | |
NM_007313.3:c.958C>A | NP_009297.2:p.Leu320Ile |