Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74523025T= , CM000671.2:g.74523025T= | GRCh38 |
| NC_000009.11:g.77137941T= , CM000671.1:g.77137941T= | GRCh37 |
| NC_000009.10:g.76327761T= | NCBI36 |
| NG_046926.2:g.30690T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006914.4:c.7+25042T= MANE Select | NP_008845.2:n.7+25042T= |
| ENST00000376896.8:c.7+25042T= MANE Select | ENSP00000366093.2:n.7+25042T= |
| NM_006914.3:c.7+25042T= | NP_008845.2:n.7+25042T= |
| ENST00000376896.7:c.7+25042T= | ENSP00000366093.2:n.7+25042T= |