gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28100247 (AMR)
Genomes Max Group AF
0.28100247 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43737868C>T , CM000664.2:g.43737868C>T | GRCh38 |
| NC_000002.11:g.43965007C>T , CM000664.1:g.43965007C>T | GRCh37 |
| NC_000002.10:g.43818511C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282406.9:c.2944-473C>T MANE Select | ENSP00000282406.4:n.2944-473C>T | |
| ENST00000282406.8:c.2944-473C>T | ENSP00000282406.4:n.2944-473C>T | |
| ENST00000405000.6:n.4870-473C>T | ||
| ENST00000405223.6:n.3024-473C>T | ||
| ENST00000480103.5:n.63-473C>T | ||
| NM_172069.3:c.2944-473C>T | NP_742066.2:n.2944-473C>T | |
| XM_011532539.1:c.1255-473C>T | XP_011530841.1:n.1255-473C>T | |
| XR_244924.1:n.3027-473C>T | ||
| XR_426981.1:n.3027-473C>T | ||
| XR_939656.1:n.3027-473C>T | ||
| XR_939657.1:n.3017-473C>T | ||
| XM_017003351.2:c.2821-473C>T | XP_016858840.1:n.2821-473C>T | |
| XM_017003353.1:c.1255-473C>T | XP_016858842.1:n.1255-473C>T | |
| XM_024452695.1:c.2749-473C>T | XP_024308463.1:n.2749-473C>T | |
| XR_001738620.1:n.3027-473C>T | ||
| XR_001738621.1:n.3027-473C>T | ||
| XR_001738622.1:n.3027-473C>T | ||
| XR_426981.2:n.3027-473C>T | ||
| XR_939657.2:n.3017-473C>T | ||
| NM_172069.4:c.2944-473C>T MANE Select | NP_742066.2:n.2944-473C>T |