HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577952C>G , CM000671.2:g.98577952C>G | GRCh38 |
NC_000009.11:g.101340234C>G , CM000671.1:g.101340234C>G | GRCh37 |
NC_000009.10:g.100380055C>G | NCBI36 |
NG_016426.1:g.136246G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.442G>C MANE Select | ENSP00000259455.2:p.Gly148Arg | |
ENST00000637410.1:n.220G>C | ||
ENST00000637717.1:c.58G>C | ENSP00000490789.1:p.Gly20Arg | |
ENST00000259455.3:c.442G>C | ENSP00000259455.2:p.Gly148Arg | |
ENST00000634227.1:n.216G>C | ||
NM_005458.7:c.442G>C | NP_005449.5:p.Gly148Arg | |
NM_005458.8:c.442G>C MANE Select | NP_005449.5:p.Gly148Arg |