Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135952799A>G , CM000667.2:g.135952799A>G | GRCh38 |
| NC_000005.9:g.135288488A>G , CM000667.1:g.135288488A>G | GRCh37 |
| NC_000005.8:g.135316387A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274507.6:c.143+72T>C MANE Select | ENSP00000274507.1:n.143+72T>C | |
| ENST00000274507.5:c.143+72T>C | ENSP00000274507.1:n.143+72T>C | |
| ENST00000471827.1:n.246+72T>C | ||
| ENST00000512872.1:c.-74+72T>C | ENSP00000427012.1:n.-74+72T>C | |
| ENST00000514447.2:c.143+72T>C | ENSP00000421123.2:n.143+72T>C | |
| ENST00000522943.5:c.143+72T>C | ENSP00000429618.1:n.143+72T>C | |
| NM_002302.2:c.143+72T>C | NP_002293.2:n.143+72T>C | |
| NM_002302.3:c.143+72T>C MANE Select | NP_002293.2:n.143+72T>C |