Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872883T= , CM000671.2:g.130872883T= | GRCh38 |
| NC_000009.11:g.133748270T= , CM000671.1:g.133748270T= | GRCh37 |
| NC_000009.10:g.132738091T= | NCBI36 |
| NG_012034.1:g.164003T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.988T= | ENSP00000361423.2:p.Phe330= | |
| ENST00000318560.6:c.931T= MANE Select | ENSP00000323315.5:p.Phe311= | |
| ENST00000372348.7:c.988T= | ENSP00000361423.2:p.Phe330= | |
| ENST00000318560.5:c.931T= | ENSP00000323315.5:p.Phe311= | |
| ENST00000372348.6:c.988T= | ENSP00000361423.2:p.Phe330= | |
| NM_005157.5:c.931T= | NP_005148.2:p.Phe311= | |
| NM_007313.2:c.988T= | NP_009297.2:p.Phe330= | |
| NM_005157.6:c.931T= MANE Select | NP_005148.2:p.Phe311= | |
| NM_007313.3:c.988T= | NP_009297.2:p.Phe330= |