Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872104C= , CM000671.2:g.130872104C= | GRCh38 |
| NC_000009.11:g.133747491C= , CM000671.1:g.133747491C= | GRCh37 |
| NC_000009.10:g.132737312C= | NCBI36 |
| NG_012034.1:g.163224C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.880-25C= | ENSP00000361423.2:n.880-25C= | |
| ENST00000318560.6:c.823-25C= MANE Select | ENSP00000323315.5:n.823-25C= | |
| ENST00000372348.7:c.880-25C= | ENSP00000361423.2:n.880-25C= | |
| ENST00000318560.5:c.823-25C= | ENSP00000323315.5:n.823-25C= | |
| ENST00000372348.6:c.880-25C= | ENSP00000361423.2:n.880-25C= | |
| NM_005157.5:c.823-25C= | NP_005148.2:n.823-25C= | |
| NM_007313.2:c.880-25C= | NP_009297.2:n.880-25C= | |
| NM_005157.6:c.823-25C= MANE Select | NP_005148.2:n.823-25C= | |
| NM_007313.3:c.880-25C= | NP_009297.2:n.880-25C= |