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