Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218958A>G , CM000677.2:g.89218958A>G | GRCh38 |
| NC_000015.9:g.89762189A>G , CM000677.1:g.89762189A>G | GRCh37 |
| NC_000015.8:g.87563193A>G | NCBI36 |
| NG_008116.1:g.7734T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.12+6T>C MANE Select | NP_000317.1:n.12+6T>C |
| ENST00000268125.10:c.12+6T>C MANE Select | ENSP00000268125.5:n.12+6T>C |
| NM_000326.4:c.12+6T>C | NP_000317.1:n.12+6T>C |
| ENST00000268125.9:c.12+6T>C | ENSP00000268125.5:n.12+6T>C |
| ENST00000567787.1:c.12+6T>C | ENSP00000457251.1:n.12+6T>C |
| XM_011521870.1:c.12+6T>C | XP_011520172.1:n.12+6T>C |
| XM_011521870.2:c.12+6T>C | XP_011520172.1:n.12+6T>C |