Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118300G>C , CM000685.2:g.78118300G>C | GRCh38 |
| NC_000023.10:g.77373797G>C , CM000685.1:g.77373797G>C | GRCh37 |
| NC_000023.9:g.77260453G>C | NCBI36 |
| NG_008862.1:g.19132G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.641+130G>C MANE Select | ENSP00000362413.4:n.641+130G>C | |
| ENST00000644362.1:c.557+130G>C | ENSP00000496140.1:n.557+130G>C | |
| ENST00000373316.4:c.641+130G>C | ENSP00000362413.4:n.641+130G>C | |
| ENST00000491291.1:n.633+130G>C | ||
| NM_000291.3:c.641+130G>C | NP_000282.1:n.641+130G>C | |
| NM_000291.4:c.641+130G>C MANE Select | NP_000282.1:n.641+130G>C |