HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98578034T>G , CM000671.2:g.98578034T>G | GRCh38 |
NC_000009.11:g.101340316T>G , CM000671.1:g.101340316T>G | GRCh37 |
NC_000009.10:g.100380137T>G | NCBI36 |
NG_016426.1:g.136164A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.360A>C MANE Select | ENSP00000259455.2:p.Ala120= | |
ENST00000637410.1:n.138A>C | ||
ENST00000637717.1:c.-25A>C | ENSP00000490789.1:n.-25A>C | |
ENST00000259455.3:c.360A>C | ENSP00000259455.2:p.Ala120= | |
ENST00000634227.1:n.134A>C | ||
NM_005458.7:c.360A>C | NP_005449.5:p.Ala120= | |
NM_005458.8:c.360A>C MANE Select | NP_005449.5:p.Ala120= |