Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872262G= , CM000671.2:g.130872262G= | GRCh38 |
| NC_000009.11:g.133747649G= , CM000671.1:g.133747649G= | GRCh37 |
| NC_000009.10:g.132737470G= | NCBI36 |
| NG_012034.1:g.163382G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.964+49G= | ENSP00000361423.2:n.964+49G= | |
| ENST00000318560.6:c.907+49G= MANE Select | ENSP00000323315.5:n.907+49G= | |
| ENST00000372348.7:c.964+49G= | ENSP00000361423.2:n.964+49G= | |
| ENST00000318560.5:c.907+49G= | ENSP00000323315.5:n.907+49G= | |
| ENST00000372348.6:c.964+49G= | ENSP00000361423.2:n.964+49G= | |
| NM_005157.5:c.907+49G= | NP_005148.2:n.907+49G= | |
| NM_007313.2:c.964+49G= | NP_009297.2:n.964+49G= | |
| NM_005157.6:c.907+49G= MANE Select | NP_005148.2:n.907+49G= | |
| NM_007313.3:c.964+49G= | NP_009297.2:n.964+49G= |