gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87363367 (AFR)
Genomes Max Group AF
0.87363367 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206474107A>G , CM000663.2:g.206474107A>G | GRCh38 |
| NC_000001.10:g.206647450A>G , CM000663.1:g.206647450A>G | GRCh37 |
| NC_000001.9:g.204714073A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581977.7:c.88-224A>G MANE Select | ENSP00000464030.1:n.88-224A>G | |
| ENST00000578328.6:c.88-224A>G | ENSP00000473833.1:n.88-224A>G | |
| ENST00000579827.6:c.88-224A>G | ENSP00000474422.1:n.88-224A>G | |
| ENST00000581977.6:c.88-224A>G | ENSP00000464030.1:n.88-224A>G | |
| ENST00000584998.5:c.-168-224A>G | ENSP00000462396.1:n.-168-224A>G | |
| ENST00000605726.1:c.88-224A>G | ENSP00000474229.1:n.88-224A>G | |
| ENST00000605818.5:n.433-224A>G | ||
| NM_001193321.1:c.-168-224A>G | NP_001180250.1:n.-168-224A>G | |
| NM_001193322.1:c.88-224A>G | NP_001180251.1:n.88-224A>G | |
| NM_014002.3:c.88-224A>G | NP_054721.1:n.88-224A>G | |
| XM_005273356.2:c.88-224A>G | XP_005273413.1:n.88-224A>G | |
| XR_922002.1:n.462-224A>G | ||
| XM_017002868.1:c.-394-224A>G | XP_016858357.1:n.-394-224A>G | |
| XR_922002.2:n.440-224A>G | ||
| NM_014002.4:c.88-224A>G MANE Select | NP_054721.1:n.88-224A>G | |
| NM_001193321.2:c.-168-224A>G | NP_001180250.1:n.-168-224A>G | |
| NM_001193322.2:c.88-224A>G | NP_001180251.1:n.88-224A>G |