HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827644C>T , CM000667.2:g.148827644C>T | GRCh38 |
NC_000005.9:g.148207207C>T , CM000667.1:g.148207207C>T | GRCh37 |
NC_000005.8:g.148187400C>T | NCBI36 |
NG_016421.1:g.6052C>T | |
NG_016421.2:g.6052C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.813C>T MANE Select | ENSP00000305372.4:p.Ala271= | |
ENST00000305988.5:c.813C>T | ENSP00000305372.4:p.Ala271= | |
NM_000024.5:c.813C>T | NP_000015.1:p.Ala271= | |
NM_000024.6:c.813C>T MANE Select | NP_000015.2:p.Ala271= |