gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002978 (EAS)
Genomes Max Group AF
0.00015702 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18025708G>A , CM000673.2:g.18025708G>A | GRCh38 |
| NC_000011.9:g.18047255G>A , CM000673.1:g.18047255G>A | GRCh37 |
| NC_000011.8:g.18003831G>A | NCBI36 |
| NG_011947.1:g.20081C>T | |
| NG_011947.2:g.20081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682019.1:c.804-7C>T MANE Select | ENSP00000508368.1:n.804-7C>T | |
| ENST00000250018.6:c.804-7C>T | ENSP00000250018.2:n.804-7C>T | |
| ENST00000417164.5:c.607-7C>T | ENSP00000403831.1:n.607-7C>T | |
| NM_004179.2:c.804-7C>T | NP_004170.1:n.804-7C>T | |
| NM_004179.3:c.804-7C>T MANE Select | NP_004170.1:n.804-7C>T |