gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20638211G>T , CM000673.2:g.20638211G>T | GRCh38 |
| NC_000011.9:g.20659757G>T , CM000673.1:g.20659757G>T | GRCh37 |
| NC_000011.8:g.20616333G>T | NCBI36 |
| NG_013086.1:g.43812G>T | |
| NG_013086.2:g.43812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1870-248G>T MANE Select | ENSP00000434364.2:n.1870-248G>T | |
| ENST00000298923.11:c.*1167-248G>T | ENSP00000298923.7:n.*1167-248G>T | |
| ENST00000525748.5:c.1870-248G>T | ENSP00000434364.1:n.1870-248G>T | |
| ENST00000528440.1:n.401-248G>T | ||
| NM_004211.3:c.1870-248G>T | NP_004202.2:n.1870-248G>T | |
| XM_005253225.1:c.1168-248G>T | XP_005253282.1:n.1168-248G>T | |
| XM_011520473.1:c.1870-248G>T | XP_011518775.1:n.1870-248G>T | |
| NM_001318369.1:c.1168-248G>T | NP_001305298.1:n.1168-248G>T | |
| NM_004211.4:c.1870-248G>T | NP_004202.3:n.1870-248G>T | |
| XM_017018544.2:c.994-248G>T | XP_016874033.1:n.994-248G>T | |
| XM_017018545.2:c.829-248G>T | XP_016874034.1:n.829-248G>T | |
| NM_001318369.2:c.1168-248G>T | NP_001305298.1:n.1168-248G>T | |
| NM_004211.5:c.1870-248G>T MANE Select | NP_004202.4:n.1870-248G>T |