HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577951C>G , CM000671.2:g.98577951C>G | GRCh38 |
NC_000009.11:g.101340233C>G , CM000671.1:g.101340233C>G | GRCh37 |
NC_000009.10:g.100380054C>G | NCBI36 |
NG_016426.1:g.136247G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.443G>C MANE Select | ENSP00000259455.2:p.Gly148Ala | |
ENST00000637410.1:n.221G>C | ||
ENST00000637717.1:c.59G>C | ENSP00000490789.1:p.Gly20Ala | |
ENST00000259455.3:c.443G>C | ENSP00000259455.2:p.Gly148Ala | |
ENST00000634227.1:n.217G>C | ||
NM_005458.7:c.443G>C | NP_005449.5:p.Gly148Ala | |
NM_005458.8:c.443G>C MANE Select | NP_005449.5:p.Gly148Ala |