HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818906C>T , CM000671.2:g.129818906C>T | GRCh38 |
NC_000009.11:g.132581185C>T , CM000671.1:g.132581185C>T | GRCh37 |
NC_000009.10:g.131621006C>T | NCBI36 |
NG_008049.1:g.10257G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.459G>A MANE Select | ENSP00000345719.4:p.Leu153= | |
ENST00000651202.1:c.555G>A | ENSP00000498222.1:p.Leu185= | |
ENST00000351698.4:c.459G>A | ENSP00000345719.4:p.Leu153= | |
ENST00000473604.2:n.569G>A | ||
NM_000113.2:c.459G>A | NP_000104.1:p.Leu153= | |
XR_929731.1:n.619G>A | ||
XR_929731.3:n.487G>A | ||
NM_000113.3:c.459G>A MANE Select | NP_000104.1:p.Leu153= |