Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23867883C>G , CM000663.2:g.23867883C>G | GRCh38 |
| NC_000001.10:g.24194373C>G , CM000663.1:g.24194373C>G | GRCh37 |
| NC_000001.9:g.24066960C>G | NCBI36 |
| NG_013346.1:g.5487G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000147.5:c.389+15G>C MANE Select | NP_000138.2:n.389+15G>C |
| ENST00000374479.4:c.389+15G>C MANE Select | ENSP00000363603.3:n.389+15G>C |
| NM_000147.4:c.389+15G>C | NP_000138.2:n.389+15G>C |
| NR_174379.1:n.408G>C | |
| NR_174380.1:n.393+15G>C | |
| NR_174381.1:n.393+15G>C | |
| NR_174382.1:n.408G>C | |
| ENST00000374479.3:c.389+15G>C | ENSP00000363603.3:n.389+15G>C |
| XM_005245821.1:c.-146G>C | XP_005245878.1:n.-146G>C |
| XM_005245821.3:c.-146G>C | XP_005245878.1:n.-146G>C |