gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37194566 (SAS)
Genomes Max Group AF
0.37124338 (SAS)
Exomes Max Group AF
0.36984565 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100996106C>T , CM000664.2:g.100996106C>T | GRCh38 |
| NC_000002.11:g.101612568C>T , CM000664.1:g.101612568C>T | GRCh37 |
| NC_000002.10:g.100979000C>T | NCBI36 |
| NG_023259.1:g.180956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335681.10:c.*524C>T MANE Select | ENSP00000338283.5:n.*524C>T | |
| ENST00000335681.9:c.*524C>T | ENSP00000338283.5:n.*524C>T | |
| ENST00000495559.1:n.3118C>T | ||
| NM_002518.3:c.*524C>T | NP_002509.2:n.*524C>T | |
| XM_005263953.1:c.*524C>T | XP_005264010.1:n.*524C>T | |
| XM_005263954.1:c.*156C>T | XP_005264011.1:n.*156C>T | |
| XM_005263957.1:c.*524C>T | XP_005264014.1:n.*524C>T | |
| XM_005263959.1:c.*290C>T | XP_005264016.1:n.*290C>T | |
| XM_005263960.1:c.*524C>T | XP_005264017.1:n.*524C>T | |
| XM_005263961.3:c.*524C>T | XP_005264018.1:n.*524C>T | |
| XM_011511242.1:c.*524C>T | XP_011509544.1:n.*524C>T | |
| XM_005263953.2:c.*524C>T | XP_005264010.1:n.*524C>T | |
| XM_005263959.2:c.*290C>T | XP_005264016.1:n.*290C>T | |
| XM_005263960.2:c.*524C>T | XP_005264017.1:n.*524C>T | |
| XM_005263961.4:c.*524C>T | XP_005264018.1:n.*524C>T | |
| XM_011511242.2:c.*524C>T | XP_011509544.1:n.*524C>T | |
| XM_017004214.1:c.*524C>T | XP_016859703.1:n.*524C>T | |
| XM_017004216.1:c.*290C>T | XP_016859705.1:n.*290C>T | |
| XM_017004217.1:c.*290C>T | XP_016859706.1:n.*290C>T | |
| NM_002518.4:c.*524C>T MANE Select | NP_002509.2:n.*524C>T |