gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21412417 (NFE)
Genomes Max Group AF
0.21412417 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143531228T>C , CM000665.2:g.143531228T>C | GRCh38 |
| NC_000003.11:g.143250070T>C , CM000665.1:g.143250070T>C | GRCh37 |
| NC_000003.10:g.144732760T>C | NCBI36 |
| NG_017077.1:g.322304A>G | |
| NG_017077.2:g.322304A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1089+21134A>G MANE Select | ENSP00000320246.6:n.1089+21134A>G | |
| ENST00000316549.10:c.1089+21134A>G | ENSP00000320246.6:n.1089+21134A>G | |
| NM_173653.3:c.1089+21134A>G | NP_775924.1:n.1089+21134A>G | |
| XM_011512703.1:c.441+21134A>G | XP_011511005.1:n.441+21134A>G | |
| XM_011512703.3:c.441+21134A>G | XP_011511005.1:n.441+21134A>G | |
| XM_017006202.2:c.1089+21134A>G | XP_016861691.1:n.1089+21134A>G | |
| XM_017006203.1:c.738+21134A>G | XP_016861692.1:n.738+21134A>G | |
| NM_173653.4:c.1089+21134A>G MANE Select | NP_775924.1:n.1089+21134A>G |