gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44972361 (AFR)
Genomes Max Group AF
0.44972361 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92232117C>T , CM000675.2:g.92232117C>T | GRCh38 |
| NC_000013.10:g.92884370C>T , CM000675.1:g.92884370C>T | GRCh37 |
| NC_000013.9:g.91682371C>T | NCBI36 |
| NG_009370.1:g.838436C>T | |
| NG_009370.2:g.838437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377067.9:c.1561+87128C>T MANE Select | ENSP00000366267.3:n.1561+87128C>T | |
| ENST00000377067.8:c.1561+87128C>T | ENSP00000366267.3:n.1561+87128C>T | |
| NM_004466.5:c.1561+87128C>T | NP_004457.1:n.1561+87128C>T | |
| XM_017020435.2:c.1561+87128C>T | XP_016875924.1:n.1561+87128C>T | |
| NM_004466.6:c.1561+87128C>T MANE Select | NP_004457.1:n.1561+87128C>T |