gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55001178 (AFR)
Genomes Max Group AF
0.55001178 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.79380661G>A , CM000665.2:g.79380661G>A | GRCh38 |
| NC_000003.11:g.79429811G>A , CM000665.1:g.79429811G>A | GRCh37 |
| NC_000003.10:g.79512501G>A | NCBI36 |
| NG_011729.1:g.392249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464233.6:c.88+209163C>T MANE Select | ENSP00000420321.1:n.88+209163C>T | |
| ENST00000464233.5:c.88+209163C>T | ENSP00000420321.1:n.88+209163C>T | |
| NM_002941.3:c.88+209163C>T | NP_002932.1:n.88+209163C>T | |
| XM_011533976.1:c.88+209163C>T | XP_011532278.1:n.88+209163C>T | |
| XM_011533977.1:c.88+209163C>T | XP_011532279.1:n.88+209163C>T | |
| XM_011533978.1:c.88+209163C>T | XP_011532280.1:n.88+209163C>T | |
| XM_011533979.1:c.88+209163C>T | XP_011532281.1:n.88+209163C>T | |
| XM_011533980.1:c.88+209163C>T | XP_011532282.1:n.88+209163C>T | |
| XM_011533977.2:c.88+209163C>T | XP_011532279.1:n.88+209163C>T | |
| XM_017006982.1:c.88+209163C>T | XP_016862471.1:n.88+209163C>T | |
| XM_017006984.1:c.88+209163C>T | XP_016862473.1:n.88+209163C>T | |
| NM_002941.4:c.88+209163C>T MANE Select | NP_002932.1:n.88+209163C>T |