Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78117978A>C , CM000685.2:g.78117978A>C | GRCh38 |
| NC_000023.10:g.77373475A>C , CM000685.1:g.77373475A>C | GRCh37 |
| NC_000023.9:g.77260131A>C | NCBI36 |
| NG_008862.1:g.18810A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.522-73A>C MANE Select | ENSP00000362413.4:n.522-73A>C | |
| ENST00000644362.1:c.438-73A>C | ENSP00000496140.1:n.438-73A>C | |
| ENST00000373316.4:c.522-73A>C | ENSP00000362413.4:n.522-73A>C | |
| ENST00000491291.1:n.514-73A>C | ||
| NM_000291.3:c.522-73A>C | NP_000282.1:n.522-73A>C | |
| NM_000291.4:c.522-73A>C MANE Select | NP_000282.1:n.522-73A>C |