HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73329759C>G , CM000677.2:g.73329759C>G | GRCh38 |
NC_000015.9:g.73622100C>G , CM000677.1:g.73622100C>G | GRCh37 |
NC_000015.8:g.71409153C>G | NCBI36 |
NG_009063.1:g.44506G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.1404G>C MANE Select | ENSP00000261917.3:p.Ala468= | |
ENST00000261917.3:c.1404G>C | ENSP00000261917.3:p.Ala468= | |
NM_005477.2:c.1404G>C | NP_005468.1:p.Ala468= | |
XM_011521148.1:c.186G>C | XP_011519450.1:p.Ala62= | |
XM_011521148.2:c.186G>C | XP_011519450.1:p.Ala62= | |
NM_005477.3:c.1404G>C MANE Select | NP_005468.1:p.Ala468= |