Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447986A>C , CM000668.2:g.49447986A>C | GRCh38 |
| NC_000006.11:g.49415699A>C , CM000668.1:g.49415699A>C | GRCh37 |
| NC_000006.10:g.49523658A>C | NCBI36 |
| NG_007100.1:g.20154T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1445-201T>G MANE Select | ENSP00000274813.3:n.1445-201T>G | |
| ENST00000274813.3:c.1445-201T>G | ENSP00000274813.3:n.1445-201T>G | |
| NM_000255.3:c.1445-201T>G | NP_000246.2:n.1445-201T>G | |
| XM_005249143.2:c.1445-201T>G | XP_005249200.1:n.1445-201T>G | |
| XM_005249143.3:c.1445-201T>G | XP_005249200.1:n.1445-201T>G | |
| NM_000255.4:c.1445-201T>G MANE Select | NP_000246.2:n.1445-201T>G |