Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118321C>A , CM000685.2:g.78118321C>A | GRCh38 |
| NC_000023.10:g.77373818C>A , CM000685.1:g.77373818C>A | GRCh37 |
| NC_000023.9:g.77260474C>A | NCBI36 |
| NG_008862.1:g.19153C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.641+151C>A MANE Select | ENSP00000362413.4:n.641+151C>A | |
| ENST00000644362.1:c.557+151C>A | ENSP00000496140.1:n.557+151C>A | |
| ENST00000373316.4:c.641+151C>A | ENSP00000362413.4:n.641+151C>A | |
| ENST00000491291.1:n.633+151C>A | ||
| NM_000291.3:c.641+151C>A | NP_000282.1:n.641+151C>A | |
| NM_000291.4:c.641+151C>A MANE Select | NP_000282.1:n.641+151C>A |