Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172985671T>C , CM000667.2:g.172985671T>C | GRCh38 |
| NC_000005.9:g.172412674T>C , CM000667.1:g.172412674T>C | GRCh37 |
| NC_000005.8:g.172345280T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003945.4:c.104+1707T>C MANE Select | NP_003936.1:n.104+1707T>C |
| ENST00000519374.6:c.104+1707T>C MANE Select | ENSP00000429690.1:n.104+1707T>C |
| NM_003945.3:c.104+1707T>C | NP_003936.1:n.104+1707T>C |
| ENST00000265093.4:c.104+1707T>C | ENSP00000265093.4:n.104+1707T>C |
| ENST00000517669.1:c.104+1707T>C | ENSP00000427941.1:n.104+1707T>C |
| ENST00000519374.5:c.104+1707T>C | ENSP00000429690.1:n.104+1707T>C |
| ENST00000519911.5:c.104+1707T>C | ENSP00000430896.1:n.104+1707T>C |