gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30447288 (SAS)
Genomes Max Group AF
0.30447288 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94338336T>G , CM000672.2:g.94338336T>G | GRCh38 |
| NC_000010.10:g.96098093T>G , CM000672.1:g.96098093T>G | GRCh37 |
| NC_000010.9:g.96088083T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371361.3:c.2091+272A>C MANE Select | ENSP00000360412.3:n.2091+272A>C | |
| NM_022451.10:c.2091+272A>C | NP_071896.8:n.2091+272A>C | |
| XR_945799.1:n.2211+272A>C | ||
| XM_017016544.1:c.1446+272A>C | XP_016872033.1:n.1446+272A>C | |
| XR_001747181.2:n.2223+272A>C | ||
| XR_001747182.2:n.2111+272A>C | ||
| XR_002957007.1:n.2212+272A>C | ||
| NM_022451.11:c.2091+272A>C MANE Select | NP_071896.8:n.2091+272A>C |