Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862756C>T , CM000671.2:g.130862756C>T | GRCh38 |
| NC_000009.11:g.133738143C>T , CM000671.1:g.133738143C>T | GRCh37 |
| NC_000009.10:g.132727964C>T | NCBI36 |
| NG_012034.1:g.153876C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005157.6:c.550-7C>T MANE Select | NP_005148.2:n.550-7C>T |
| ENST00000318560.6:c.550-7C>T MANE Select | ENSP00000323315.5:n.550-7C>T |
| NM_005157.5:c.550-7C>T | NP_005148.2:n.550-7C>T |
| NM_007313.2:c.607-7C>T | NP_009297.2:n.607-7C>T |
| NM_007313.3:c.607-7C>T | NP_009297.2:n.607-7C>T |
| ENST00000318560.5:c.550-7C>T | ENSP00000323315.5:n.550-7C>T |
| ENST00000372348.6:c.607-7C>T | ENSP00000361423.2:n.607-7C>T |
| ENST00000372348.7:c.607-7C>T | ENSP00000361423.2:n.607-7C>T |
| ENST00000372348.9:c.607-7C>T | ENSP00000361423.2:n.607-7C>T |