Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837203G>T , CM000685.2:g.46837203G>T | GRCh38 |
| NC_000023.10:g.46696638G>T , CM000685.1:g.46696638G>T | GRCh37 |
| NC_000023.9:g.46581582G>T | NCBI36 |
| NG_009107.1:g.5292G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.102+1G>T MANE Select | NP_008846.2:n.102+1G>T |
| ENST00000218340.4:c.102+1G>T MANE Select | ENSP00000218340.3:n.102+1G>T |
| NM_006915.2:c.102+1G>T | NP_008846.2:n.102+1G>T |
| ENST00000218340.3:c.102+1G>T | ENSP00000218340.3:n.102+1G>T |