HGVS | Genome Assembly |
---|---|
NC_000009.12:g.38396495C>T , CM000671.2:g.38396495C>T | GRCh38 |
NC_000009.11:g.38396492C>T , CM000671.1:g.38396492C>T | GRCh37 |
NC_000009.10:g.38386492C>T | NCBI36 |
NG_012253.1:g.8791C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377698.4:c.747C>T MANE Select | ENSP00000366927.3:p.Ile249= | |
ENST00000377698.3:c.747C>T | ENSP00000366927.3:p.Ile249= | |
NM_000692.4:c.747C>T | NP_000683.3:p.Ile249= | |
XM_011517802.1:c.747C>T | XP_011516104.1:p.Ile249= | |
XM_011517802.2:c.747C>T | XP_011516104.1:p.Ile249= | |
NM_000692.5:c.747C>T MANE Select | NP_000683.3:p.Ile249= |