Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119872018G>A , CM000685.2:g.119872018G>A | GRCh38 |
| NC_000023.10:g.119005981G>A , CM000685.1:g.119005981G>A | GRCh37 |
| NC_000023.9:g.118890009G>A | NCBI36 |
| NG_009381.1:g.5248G>A | |
| NG_021227.1:g.4811C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004541.4:c.102+5G>A MANE Select | NP_004532.1:n.102+5G>A |
| ENST00000371437.5:c.102+5G>A MANE Select | ENSP00000360492.4:n.102+5G>A |
| NM_004541.3:c.102+5G>A | NP_004532.1:n.102+5G>A |
| ENST00000371437.4:c.102+5G>A | ENSP00000360492.4:n.102+5G>A |