HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73323903G>A , CM000677.2:g.73323903G>A | GRCh38 |
NC_000015.9:g.73616244G>A , CM000677.1:g.73616244G>A | GRCh37 |
NC_000015.8:g.71403297G>A | NCBI36 |
NG_009063.1:g.50362C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.2190C>T MANE Select | ENSP00000261917.3:p.Asn730= | |
ENST00000261917.3:c.2190C>T | ENSP00000261917.3:p.Asn730= | |
NM_005477.2:c.2190C>T | NP_005468.1:p.Asn730= | |
XM_011521148.1:c.972C>T | XP_011519450.1:p.Asn324= | |
XM_011521148.2:c.972C>T | XP_011519450.1:p.Asn324= | |
NM_005477.3:c.2190C>T MANE Select | NP_005468.1:p.Asn730= |