HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74689412T>C , CM000667.2:g.74689412T>C | GRCh38 |
NC_000005.9:g.73985237T>C , CM000667.1:g.73985237T>C | GRCh37 |
NC_000005.8:g.74020993T>C | NCBI36 |
NG_009770.1:g.9269T>C | |
NG_009770.2:g.54390T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261416.12:c.384T>C MANE Select | ENSP00000261416.7:p.Leu128= | |
ENST00000261416.11:c.384T>C | ENSP00000261416.7:p.Leu128= | |
ENST00000511181.5:c.-292T>C | ENSP00000426285.1:n.-292T>C | |
ENST00000513079.5:n.449T>C | ||
ENST00000515528.1:n.439T>C | ||
NM_000521.3:c.384T>C | NP_000512.1:p.Leu128= | |
NM_001292004.1:c.-292T>C | NP_001278933.1:n.-292T>C | |
NM_000521.4:c.384T>C MANE Select | NP_000512.2:p.Leu128= | |
NM_001292004.2:c.-292T>C | NP_001278933.1:n.-292T>C |