gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56584985 (AFR)
Genomes Max Group AF
0.56584985 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48587491T>C , CM000678.2:g.48587491T>C | GRCh38 |
| NC_000016.9:g.48621402T>C , CM000678.1:g.48621402T>C | GRCh37 |
| NC_000016.8:g.47178903T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262384.4:c.198+22284A>G MANE Select | ENSP00000262384.3:n.198+22284A>G | |
| ENST00000262384.3:c.198+22284A>G | ENSP00000262384.3:n.198+22284A>G | |
| ENST00000564124.5:n.301-25047A>G | ||
| ENST00000564710.1:c.-61+16169A>G | ENSP00000460667.1:n.-61+16169A>G | |
| NM_153029.3:c.198+22284A>G | NP_694574.3:n.198+22284A>G | |
| XM_005256262.1:c.198+22284A>G | XP_005256319.1:n.198+22284A>G | |
| XM_011523482.1:c.198+22284A>G | XP_011521784.1:n.198+22284A>G | |
| XR_001752039.1:n.440+22284A>G | ||
| XR_001752040.1:n.440+22284A>G | ||
| NM_153029.4:c.198+22284A>G MANE Select | NP_694574.3:n.198+22284A>G |