gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02553677 (AFR)
Genomes Max Group AF
0.02553801 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36544950G>T , CM000679.2:g.36544950G>T | GRCh38 |
| NC_000017.10:g.34900799G>T , CM000679.1:g.34900799G>T | GRCh37 |
| NC_000017.9:g.31974912G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613102.5:c.-254G>T MANE Select | ENSP00000478220.1:n.-254G>T | |
| ENST00000611219.1:c.-254G>T | ENSP00000483332.1:n.-254G>T | |
| ENST00000613102.4:c.-254G>T | ENSP00000478220.1:n.-254G>T | |
| ENST00000617860.4:n.32G>T | ||
| ENST00000618837.4:n.19G>T | ||
| NM_024835.4:c.-254G>T | NP_079111.1:n.-254G>T | |
| XM_005257689.2:c.-254G>T | XP_005257746.1:n.-254G>T | |
| XM_011525265.1:c.-148G>T | XP_011523567.1:n.-148G>T | |
| XM_011525266.1:c.-254G>T | XP_011523568.1:n.-254G>T | |
| XM_005257689.3:c.-254G>T | XP_005257746.1:n.-254G>T | |
| XM_011525265.3:c.-148G>T | XP_011523567.1:n.-148G>T | |
| XM_011525266.2:c.-254G>T | XP_011523568.1:n.-254G>T | |
| NM_024835.5:c.-254G>T MANE Select | NP_079111.1:n.-254G>T |