gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59694729 (AFR)
Genomes Max Group AF
0.59694729 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.109809945T>G , CM000667.2:g.109809945T>G | GRCh38 |
| NC_000005.9:g.109145646T>G , CM000667.1:g.109145646T>G | GRCh37 |
| NC_000005.8:g.109173545T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261483.5:c.1944-7328T>G MANE Select | ENSP00000261483.4:n.1944-7328T>G | |
| ENST00000261483.4:c.1944-7328T>G | ENSP00000261483.4:n.1944-7328T>G | |
| ENST00000502261.5:n.64-7328T>G | ||
| ENST00000508043.1:n.102+5668T>G | ||
| NM_002372.3:c.1944-7328T>G | NP_002363.2:n.1944-7328T>G | |
| XM_011543394.1:c.1797-7328T>G | XP_011541696.1:n.1797-7328T>G | |
| XM_011543395.1:c.1944-7328T>G | XP_011541697.1:n.1944-7328T>G | |
| XR_948262.1:n.2558+5668T>G | ||
| XM_011543395.3:c.1944-7328T>G | XP_011541697.1:n.1944-7328T>G | |
| XM_017009472.1:c.1797-7328T>G | XP_016864961.1:n.1797-7328T>G | |
| XM_024446048.1:c.1350-7328T>G | XP_024301816.1:n.1350-7328T>G | |
| XR_001742067.2:n.3068+5668T>G | ||
| NM_002372.4:c.1944-7328T>G MANE Select | NP_002363.2:n.1944-7328T>G |