Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29254160C>T , CM000679.2:g.29254160C>T | GRCh38 |
| NC_000017.10:g.27581178C>T , CM000679.1:g.27581178C>T | GRCh37 |
| NC_000017.9:g.24605304C>T | NCBI36 |
| NG_008037.1:g.12304C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005208.5:c.501-42C>T MANE Select | NP_005199.2:n.501-42C>T |
| ENST00000225387.8:c.501-42C>T MANE Select | ENSP00000225387.3:n.501-42C>T |
| NM_005208.4:c.501-42C>T | NP_005199.2:n.501-42C>T |
| ENST00000225387.7:c.501-42C>T | ENSP00000225387.3:n.501-42C>T |
| ENST00000484605.1:c.349-42C>T | |
| XM_017024198.1:c.804-42C>T | XP_016879687.1:n.804-42C>T |