gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39379741 (AFR)
Genomes Max Group AF
0.39379741 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84824726T>C , CM000663.2:g.84824726T>C | GRCh38 |
| NC_000001.10:g.85290409T>C , CM000663.1:g.85290409T>C | GRCh37 |
| NC_000001.9:g.85062997T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370611.4:c.737-10555A>G MANE Select | ENSP00000359643.3:n.737-10555A>G | |
| ENST00000370611.3:c.737-10555A>G | ENSP00000359643.3:n.737-10555A>G | |
| ENST00000440886.1:c.737-10555A>G | ENSP00000395389.1:n.737-10555A>G | |
| ENST00000491034.1:n.616-10555A>G | ||
| NM_012152.2:c.737-10555A>G | NP_036284.1:n.737-10555A>G | |
| XM_011541149.1:c.737-10555A>G | XP_011539451.1:n.737-10555A>G | |
| XM_024446127.1:c.770-10555A>G | XP_024301895.1:n.770-10555A>G | |
| XM_024446128.1:c.737-10555A>G | XP_024301896.1:n.737-10555A>G | |
| NM_012152.3:c.737-10555A>G MANE Select | NP_036284.1:n.737-10555A>G |