gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78814445 (NFE)
Genomes Max Group AF
0.77958664 (NFE)
Exomes Max Group AF
0.78837929 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46935752A>T , CM000663.2:g.46935752A>T | GRCh38 |
| NC_000001.10:g.47401424A>T , CM000663.1:g.47401424A>T | GRCh37 |
| NC_000001.9:g.47174011A>T | NCBI36 |
| NG_007932.1:g.10733T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.511-105T>A MANE Select | ENSP00000311095.4:n.511-105T>A | |
| ENST00000310638.8:c.511-105T>A | ENSP00000311095.4:n.511-105T>A | |
| ENST00000371904.8:c.511-105T>A | ENSP00000360971.4:n.511-105T>A | |
| ENST00000371905.1:c.511-105T>A | ENSP00000360972.1:n.511-105T>A | |
| ENST00000462347.5:c.511-105T>A | ENSP00000477495.1:n.511-105T>A | |
| ENST00000465874.5:c.511-105T>A | ENSP00000476368.1:n.511-105T>A | |
| ENST00000468629.5:c.511-105T>A | ENSP00000476619.1:n.511-105T>A | |
| ENST00000474458.5:c.511-105T>A | ENSP00000476988.1:n.511-105T>A | |
| ENST00000475477.5:c.511-105T>A | ENSP00000476854.1:n.511-105T>A | |
| NM_000778.3:c.511-105T>A | NP_000769.2:n.511-105T>A | |
| XM_005270539.1:c.511-105T>A | XP_005270596.1:n.511-105T>A | |
| XM_011540826.1:c.529-105T>A | XP_011539128.1:n.529-105T>A | |
| XM_011540827.1:c.529-105T>A | XP_011539129.1:n.529-105T>A | |
| XM_011540828.1:c.217-105T>A | XP_011539130.1:n.217-105T>A | |
| XM_011540829.1:c.529-105T>A | XP_011539131.1:n.529-105T>A | |
| XM_011540830.1:c.529-105T>A | XP_011539132.1:n.529-105T>A | |
| XR_246241.1:n.554-105T>A | ||
| XR_246242.1:n.554-105T>A | ||
| NM_001319155.1:c.511-105T>A | NP_001306084.1:n.511-105T>A | |
| NM_001363587.1:c.511-105T>A | NP_001350516.1:n.511-105T>A | |
| NR_134988.1:n.562-105T>A | ||
| NR_134989.1:n.562-105T>A | ||
| NR_134990.1:n.562-105T>A | ||
| NR_134991.1:n.543-105T>A | ||
| NR_134992.1:n.562-105T>A | ||
| NR_134993.1:n.562-105T>A | ||
| NR_134994.1:n.562-105T>A | ||
| XM_017000465.1:c.199-105T>A | XP_016855954.1:n.199-105T>A | |
| XR_001737005.1:n.554-105T>A | ||
| NM_000778.4:c.511-105T>A MANE Select | NP_000769.2:n.511-105T>A | |
| NM_001319155.2:c.511-105T>A | NP_001306084.1:n.511-105T>A | |
| NM_001363587.2:c.511-105T>A | NP_001350516.1:n.511-105T>A | |
| NR_134988.2:n.554-105T>A | ||
| NR_134989.2:n.554-105T>A | ||
| NR_134990.2:n.554-105T>A | ||
| NR_134991.2:n.535-105T>A | ||
| NR_134992.2:n.554-105T>A | ||
| NR_134993.2:n.554-105T>A | ||
| NR_134994.2:n.554-105T>A |