HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685478C= , CM000667.2:g.74685478C= | GRCh38 |
NC_000005.9:g.73981303C= , CM000667.1:g.73981303C= | GRCh37 |
NC_000005.8:g.74017059C= | NCBI36 |
NG_009770.1:g.5335C= | |
NG_009770.2:g.50456C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.218C= MANE Select | ENSP00000261416.7:p.Ala73= | |
ENST00000261416.11:c.218C= | ENSP00000261416.7:p.Ala73= | |
ENST00000511181.5:c.-376-3850C= | ENSP00000426285.1:n.-376-3850C= | |
ENST00000513079.5:n.283C= | ||
ENST00000515528.1:n.273C= | ||
NM_000521.3:c.218C= | NP_000512.1:p.Ala73= | |
NM_001292004.1:c.-376-3850C= | NP_001278933.1:n.-376-3850C= | |
NM_000521.4:c.218C= MANE Select | NP_000512.2:p.Ala73= | |
NM_001292004.2:c.-376-3850C= | NP_001278933.1:n.-376-3850C= |