gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39694652 (AMR)
Genomes Max Group AF
0.39694652 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186900940G>T , CM000663.2:g.186900940G>T | GRCh38 |
| NC_000001.10:g.186870072G>T , CM000663.1:g.186870072G>T | GRCh37 |
| NC_000001.9:g.185136695G>T | NCBI36 |
| NG_012203.1:g.77041G>T | |
| NG_012203.2:g.77041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367466.4:c.379-6025G>T MANE Select | ENSP00000356436.3:n.379-6025G>T | |
| ENST00000367466.3:c.379-6025G>T | ENSP00000356436.3:n.379-6025G>T | |
| ENST00000466600.1:n.448-6025G>T | ||
| NM_001311193.1:c.378+6729G>T | NP_001298122.1:n.378+6729G>T | |
| NM_024420.2:c.379-6025G>T | NP_077734.1:n.379-6025G>T | |
| XM_005245267.2:c.268-6025G>T | XP_005245324.1:n.268-6025G>T | |
| XM_011509641.1:c.400-6025G>T | XP_011507943.1:n.400-6025G>T | |
| XM_011509642.1:c.379-6025G>T | XP_011507944.1:n.379-6025G>T | |
| XM_011509643.1:c.379-6025G>T | XP_011507945.1:n.379-6025G>T | |
| XR_921838.1:n.440-6025G>T | ||
| XM_005245267.4:c.394-6025G>T | XP_005245324.2:n.394-6025G>T | |
| XM_011509642.2:c.379-6025G>T | XP_011507944.1:n.379-6025G>T | |
| NM_001311193.2:c.378+6729G>T | NP_001298122.2:n.378+6729G>T | |
| NM_024420.3:c.379-6025G>T MANE Select | NP_077734.2:n.379-6025G>T |