Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135952779G>T , CM000667.2:g.135952779G>T | GRCh38 |
| NC_000005.9:g.135288468G>T , CM000667.1:g.135288468G>T | GRCh37 |
| NC_000005.8:g.135316367G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274507.6:c.143+92C>A MANE Select | ENSP00000274507.1:n.143+92C>A | |
| ENST00000274507.5:c.143+92C>A | ENSP00000274507.1:n.143+92C>A | |
| ENST00000471827.1:n.246+92C>A | ||
| ENST00000512872.1:c.-74+92C>A | ENSP00000427012.1:n.-74+92C>A | |
| ENST00000514447.2:c.143+92C>A | ENSP00000421123.2:n.143+92C>A | |
| ENST00000522943.5:c.143+92C>A | ENSP00000429618.1:n.143+92C>A | |
| NM_002302.2:c.143+92C>A | NP_002293.2:n.143+92C>A | |
| NM_002302.3:c.143+92C>A MANE Select | NP_002293.2:n.143+92C>A |