Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99613031A>C , CM000668.2:g.99613031A>C | GRCh38 |
| NC_000006.11:g.100060907A>C , CM000668.1:g.100060907A>C | GRCh37 |
| NC_000006.10:g.100167628A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.398-2A>C MANE Select | ENSP00000358217.5:n.398-2A>C | |
| ENST00000369214.2:c.*60-2A>C | ENSP00000358216.2:n.*60-2A>C | |
| ENST00000369215.4:c.398-2A>C | ENSP00000358217.4:n.398-2A>C | |
| NM_021620.3:c.398-2A>C | NP_067633.2:n.398-2A>C | |
| NM_021620.4:c.398-2A>C MANE Select | NP_067633.2:n.398-2A>C |