HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344392G>A , CM000667.2:g.128344392G>A | GRCh38 |
NC_000005.9:g.127680084G>A , CM000667.1:g.127680084G>A | GRCh37 |
NC_000005.8:g.127707983G>A | NCBI36 |
NG_008750.1:g.198652C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3336C>T MANE Select | ENSP00000262464.4:p.Asn1112= | |
ENST00000262464.8:c.3336C>T | ENSP00000262464.4:p.Asn1112= | |
ENST00000508053.5:c.3336C>T | ENSP00000424571.1:p.Asn1112= | |
ENST00000508989.5:c.3237C>T | ENSP00000425596.1:p.Asn1079= | |
ENST00000619499.4:c.3333C>T | ENSP00000482132.1:p.Asn1111= | |
NM_001999.3:c.3336C>T | NP_001990.2:p.Asn1112= | |
XM_017009228.2:c.3183C>T | XP_016864717.1:p.Asn1061= | |
NM_001999.4:c.3336C>T MANE Select | NP_001990.2:p.Asn1112= |