HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154902091T>G , CM000685.2:g.154902091T>G | GRCh38 |
NC_000023.10:g.154130366T>G , CM000685.1:g.154130366T>G | GRCh37 |
NC_000023.9:g.153783560T>G | NCBI36 |
NG_011403.1:g.125633A>C | |
NG_011403.2:g.125633A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6075A>C MANE Select | ENSP00000353393.4:p.Leu2025= | |
ENST00000360256.8:c.6075A>C | ENSP00000353393.4:p.Leu2025= | |
NM_000132.3:c.6075A>C | NP_000123.1:p.Leu2025= | |
XM_011531126.1:c.5970A>C | XP_011529428.1:p.Leu1990= | |
NM_000132.4:c.6075A>C MANE Select | NP_000123.1:p.Leu2025= |