HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818913A>C , CM000671.2:g.129818913A>C | GRCh38 |
NC_000009.11:g.132581192A>C , CM000671.1:g.132581192A>C | GRCh37 |
NC_000009.10:g.131621013A>C | NCBI36 |
NG_008049.1:g.10250T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.452T>G MANE Select | ENSP00000345719.4:p.Leu151Ter | |
ENST00000651202.1:c.548T>G | ENSP00000498222.1:p.Leu183Ter | |
ENST00000351698.4:c.452T>G | ENSP00000345719.4:p.Leu151Ter | |
ENST00000473604.2:n.562T>G | ||
NM_000113.2:c.452T>G | NP_000104.1:p.Leu151Ter | |
XR_929731.1:n.612T>G | ||
XR_929731.3:n.480T>G | ||
NM_000113.3:c.452T>G MANE Select | NP_000104.1:p.Leu151Ter |