gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492716C>A , CM000673.2:g.13492716C>A | GRCh38 |
| NC_000011.9:g.13514263C>A , CM000673.1:g.13514263C>A | GRCh37 |
| NC_000011.8:g.13470839C>A | NCBI36 |
| NG_008962.1:g.8305G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.87-50G>T MANE Select | ENSP00000282091.1:n.87-50G>T | |
| ENST00000282091.5:c.87-50G>T | ENSP00000282091.1:n.87-50G>T | |
| ENST00000529816.1:c.87-50G>T | ENSP00000433208.1:n.87-50G>T | |
| NM_000315.2:c.87-50G>T | NP_000306.1:n.87-50G>T | |
| NM_000315.3:c.87-50G>T | NP_000306.1:n.87-50G>T | |
| NM_001316352.1:c.183-50G>T | NP_001303281.1:n.183-50G>T | |
| NM_000315.4:c.87-50G>T MANE Select | NP_000306.1:n.87-50G>T | |
| NM_001316352.2:c.183-50G>T | NP_001303281.1:n.183-50G>T |