gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87411984G>A , CM000669.2:g.87411984G>A | GRCh38 |
| NC_000007.13:g.87041300G>A , CM000669.1:g.87041300G>A | GRCh37 |
| NC_000007.12:g.86879236G>A | NCBI36 |
| NG_007118.1:g.73449C>T | |
| NG_007118.2:g.73449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.2833C>T | ENSP00000352135.3:p.Gln945Ter | |
| ENST00000649586.2:c.2833C>T MANE Select | ENSP00000496956.2:p.Gln945Ter | |
| ENST00000265723.8:c.2833C>T | ENSP00000265723.4:p.Gln945Ter | |
| ENST00000358400.7:c.2783+1633C>T | ENSP00000351172.3:n.2783+1633C>T | |
| ENST00000359206.7:c.2833C>T | ENSP00000352135.3:p.Gln945Ter | |
| ENST00000453593.5:c.2783+1633C>T | ENSP00000392983.1:n.2783+1633C>T | |
| NM_000443.3:c.2833C>T | NP_000434.1:p.Gln945Ter | |
| NM_018849.2:c.2833C>T | NP_061337.1:p.Gln945Ter | |
| NM_018850.2:c.2783+1633C>T | NP_061338.1:n.2783+1633C>T | |
| XM_011516308.1:c.2833C>T | XP_011514610.1:p.Gln945Ter | |
| XM_011516309.1:c.2833C>T | XP_011514611.1:p.Gln945Ter | |
| XM_011516310.1:c.2728C>T | XP_011514612.1:p.Gln910Ter | |
| XM_011516311.1:c.2784-80C>T | XP_011514613.1:n.2784-80C>T | |
| XM_011516312.1:c.2783+1633C>T | XP_011514614.1:n.2783+1633C>T | |
| XM_011516313.1:c.2783+1633C>T | XP_011514615.1:n.2783+1633C>T | |
| XM_011516314.1:c.2854C>T | XP_011514616.1:p.Gln952Ter | |
| XM_011516315.1:c.2173C>T | XP_011514617.1:p.Gln725Ter | |
| XR_927478.1:n.2779-2592C>T | ||
| XM_011516308.3:c.3103C>T | XP_011514610.3:p.Gln1035Ter | |
| XM_011516309.3:c.3103C>T | XP_011514611.3:p.Gln1035Ter | |
| XM_011516310.3:c.2998C>T | XP_011514612.3:p.Gln1000Ter | |
| XM_011516311.3:c.3054-80C>T | XP_011514613.3:n.3054-80C>T | |
| XM_011516312.3:c.3053+1633C>T | XP_011514614.3:n.3053+1633C>T | |
| XM_011516313.3:c.3053+1633C>T | XP_011514615.2:n.3053+1633C>T | |
| XM_011516315.3:c.2173C>T | XP_011514617.2:p.Gln725Ter | |
| XM_017012323.2:c.2833C>T | XP_016867812.1:p.Gln945Ter | |
| XR_001744809.2:n.3454-2592C>T | ||
| NM_000443.4:c.2833C>T MANE Select | NP_000434.1:p.Gln945Ter | |
| NM_018849.3:c.2833C>T | NP_061337.1:p.Gln945Ter | |
| NM_018850.3:c.2783+1633C>T | NP_061338.1:n.2783+1633C>T |