gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000128 (NFE)
Exomes Max Group AF
0.00001363 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136822621C>T , CM000668.2:g.136822621C>T | GRCh38 |
| NC_000006.11:g.137143759C>T , CM000668.1:g.137143759C>T | GRCh37 |
| NC_000006.10:g.137185452C>T | NCBI36 |
| NG_008462.1:g.5042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.-45C>T MANE Select | ENSP00000315680.3:n.-45C>T | |
| ENST00000541292.6:c.-45C>T | ENSP00000441004.1:n.-45C>T | |
| ENST00000318471.4:c.-45C>T | ENSP00000315680.3:n.-45C>T | |
| ENST00000367756.8:c.-45C>T | ENSP00000356730.4:n.-45C>T | |
| ENST00000541292.5:c.-45C>T | ENSP00000441004.1:n.-45C>T | |
| NM_000288.3:c.-45C>T | NP_000279.1:n.-45C>T | |
| XM_006715502.1:c.-45C>T | XP_006715565.1:n.-45C>T | |
| XM_011535900.1:c.-45C>T | XP_011534202.1:n.-45C>T | |
| XM_006715502.2:c.-45C>T | XP_006715565.1:n.-45C>T | |
| XM_017010934.2:c.-45C>T | XP_016866423.1:n.-45C>T | |
| NM_000288.4:c.-45C>T MANE Select | NP_000279.1:n.-45C>T |