Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813981G= , CM000671.2:g.129813981G= | GRCh38 |
| NC_000009.11:g.132576260G= , CM000671.1:g.132576260G= | GRCh37 |
| NC_000009.10:g.131616081G= | NCBI36 |
| NG_008049.1:g.15182C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.990C= MANE Select | ENSP00000345719.4:p.Tyr330= | |
| ENST00000651202.1:c.*258C= | ENSP00000498222.1:n.*258C= | |
| ENST00000351698.4:c.990C= | ENSP00000345719.4:p.Tyr330= | |
| ENST00000474192.1:n.574C= | ||
| NM_000113.2:c.990C= | NP_000104.1:p.Tyr330= | |
| XR_929731.3:n.1185C= | ||
| NM_000113.3:c.990C= MANE Select | NP_000104.1:p.Tyr330= |