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