Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46378815G>C , CM000664.2:g.46378815G>C | GRCh38 |
| NC_000002.11:g.46605954G>C , CM000664.1:g.46605954G>C | GRCh37 |
| NC_000002.10:g.46459458G>C | NCBI36 |
| NG_016000.1:g.86414G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.1554+48G>C MANE Select | NP_001421.2:n.1554+48G>C |
| ENST00000263734.5:c.1554+48G>C MANE Select | ENSP00000263734.3:n.1554+48G>C |
| NM_001430.4:c.1554+48G>C | NP_001421.2:n.1554+48G>C |
| ENST00000263734.4:c.1554+48G>C | ENSP00000263734.3:n.1554+48G>C |
| XM_011532698.1:c.1593+48G>C | XP_011531000.1:n.1593+48G>C |
| XM_011532698.2:c.1593+48G>C | XP_011531000.1:n.1593+48G>C |