Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.56106260G>T , CM000669.2:g.56106260G>T | GRCh38 |
| NC_000007.13:g.56173953G>T , CM000669.1:g.56173953G>T | GRCh37 |
| NC_000007.12:g.56141447G>T | NCBI36 |
| NG_046734.1:g.5371C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016139.4:c.50+104C>A MANE Select | NP_057223.1:n.50+104C>A |
| ENST00000395422.4:c.50+104C>A MANE Select | ENSP00000378812.3:n.50+104C>A |
| NM_001320327.1:c.50+104C>A | NP_001307256.1:n.50+104C>A |
| NM_001320327.2:c.50+104C>A | NP_001307256.1:n.50+104C>A |
| NM_016139.2:c.50+104C>A | NP_057223.1:n.50+104C>A |
| NM_016139.3:c.50+104C>A | NP_057223.1:n.50+104C>A |
| ENST00000395422.3:c.50+104C>A | ENSP00000378812.3:n.50+104C>A |
| ENST00000473095.1:n.68+104C>A |