Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78328355A>C , CM000671.2:g.78328355A>C | GRCh38 |
| NC_000009.11:g.80943271A>C , CM000671.1:g.80943271A>C | GRCh37 |
| NC_000009.10:g.80133091A>C | NCBI36 |
| NG_012165.1:g.36213A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058179.4:c.1007+167A>C MANE Select | NP_478059.1:n.1007+167A>C |
| ENST00000376588.4:c.1007+167A>C MANE Select | ENSP00000365773.3:n.1007+167A>C |
| NM_021154.4:c.870-626A>C | NP_066977.1:n.870-626A>C |
| NM_021154.5:c.870-626A>C | NP_066977.1:n.870-626A>C |
| NM_058179.3:c.1007+167A>C | NP_478059.1:n.1007+167A>C |
| ENST00000347159.6:c.870-626A>C | ENSP00000317606.2:n.870-626A>C |
| ENST00000376588.3:c.1007+167A>C | ENSP00000365773.3:n.1007+167A>C |