gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59688767 (NFE)
Genomes Max Group AF
0.59688767 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.133293192G>C , CM000667.2:g.133293192G>C | GRCh38 |
| NC_000005.9:g.132628884G>C , CM000667.1:g.132628884G>C | GRCh37 |
| NC_000005.8:g.132656783G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265342.12:c.727+19462C>G MANE Select | ENSP00000265342.7:n.727+19462C>G | |
| ENST00000265342.11:c.727+19462C>G | ENSP00000265342.7:n.727+19462C>G | |
| ENST00000621681.4:c.232-43627C>G | ENSP00000484273.1:n.232-43627C>G | |
| NM_015082.1:c.727+19462C>G | NP_055897.1:n.727+19462C>G | |
| XM_011543283.1:c.727+19462C>G | XP_011541585.1:n.727+19462C>G | |
| XM_011543284.1:c.727+19462C>G | XP_011541586.1:n.727+19462C>G | |
| XM_011543285.1:c.610+19462C>G | XP_011541587.1:n.610+19462C>G | |
| XM_011543286.1:c.304+19462C>G | XP_011541588.1:n.304+19462C>G | |
| XM_011543284.2:c.727+19462C>G | XP_011541586.1:n.727+19462C>G | |
| XM_011543286.3:c.304+19462C>G | XP_011541588.1:n.304+19462C>G | |
| NM_015082.2:c.727+19462C>G MANE Select | NP_055897.1:n.727+19462C>G |