Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49458952T>G , CM000668.2:g.49458952T>G | GRCh38 |
| NC_000006.11:g.49426665T>G , CM000668.1:g.49426665T>G | GRCh37 |
| NC_000006.10:g.49534624T>G | NCBI36 |
| NG_007100.1:g.9188A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.385+130A>C MANE Select | ENSP00000274813.3:n.385+130A>C | |
| ENST00000274813.3:c.385+130A>C | ENSP00000274813.3:n.385+130A>C | |
| NM_000255.3:c.385+130A>C | NP_000246.2:n.385+130A>C | |
| XM_005249143.2:c.385+130A>C | XP_005249200.1:n.385+130A>C | |
| XM_005249143.3:c.385+130A>C | XP_005249200.1:n.385+130A>C | |
| NM_000255.4:c.385+130A>C MANE Select | NP_000246.2:n.385+130A>C |