Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75539214T>C , CM000676.2:g.75539214T>C | GRCh38 |
| NC_000014.8:g.76005557T>C , CM000676.1:g.76005557T>C | GRCh37 |
| NC_000014.7:g.75075310T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006399.5:c.169-7248T>C MANE Select | NP_006390.1:n.169-7248T>C |
| ENST00000286639.8:c.169-7248T>C MANE Select | ENSP00000286639.6:n.169-7248T>C |
| NM_006399.3:c.169-7248T>C | NP_006390.1:n.169-7248T>C |
| ENST00000286639.6:c.169-7248T>C | ENSP00000286639.6:n.169-7248T>C |
| ENST00000555504.1:c.151-7692T>C | ENSP00000450486.1:n.151-7692T>C |
| ENST00000555795.1:n.192-7248T>C |