Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101585961G>A , CM000671.2:g.101585961G>A | GRCh38 |
| NC_000009.11:g.104348243G>A , CM000671.1:g.104348243G>A | GRCh37 |
| NC_000009.10:g.103388064G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.2767-6601C>T MANE Select | ENSP00000355155.3:n.2767-6601C>T | |
| ENST00000361820.3:c.2767-6601C>T | ENSP00000355155.3:n.2767-6601C>T | |
| NM_133445.2:c.2767-6601C>T | NP_597702.2:n.2767-6601C>T | |
| NM_133445.3:c.2767-6601C>T MANE Select | NP_597702.2:n.2767-6601C>T |