HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818828G>T , CM000671.2:g.129818828G>T | GRCh38 |
NC_000009.11:g.132581107G>T , CM000671.1:g.132581107G>T | GRCh37 |
NC_000009.10:g.131620928G>T | NCBI36 |
NG_008049.1:g.10335C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.537C>A MANE Select | ENSP00000345719.4:p.Leu179= | |
ENST00000651202.1:c.633C>A | ENSP00000498222.1:p.Leu211= | |
ENST00000351698.4:c.537C>A | ENSP00000345719.4:p.Leu179= | |
ENST00000473604.2:n.647C>A | ||
NM_000113.2:c.537C>A | NP_000104.1:p.Leu179= | |
XR_929731.1:n.697C>A | ||
XR_929731.3:n.565C>A | ||
NM_000113.3:c.537C>A MANE Select | NP_000104.1:p.Leu179= |