dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0223044 (AFR)
Genomes Max Group AF
0.0223044 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149326736C>G , CM000667.2:g.149326736C>G | GRCh38 |
| NC_000005.9:g.148706299C>G , CM000667.1:g.148706299C>G | GRCh37 |
| NC_000005.8:g.148686492C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296721.9:c.1811-2930C>G MANE Select | ENSP00000296721.4:n.1811-2930C>G | |
| ENST00000296721.8:c.1811-2930C>G | ENSP00000296721.4:n.1811-2930C>G | |
| ENST00000513665.1:n.972-2930C>G | ||
| ENST00000515000.1:c.1811-2930C>G | ENSP00000424427.1:n.1811-2930C>G | |
| NM_001146337.1:c.1811-2930C>G | NP_001139809.1:n.1811-2930C>G | |
| NM_152406.2:c.1811-2930C>G | NP_689619.1:n.1811-2930C>G | |
| XM_005268373.2:c.1712-2930C>G | XP_005268430.1:n.1712-2930C>G | |
| XM_011537558.1:c.1391-2930C>G | XP_011535860.1:n.1391-2930C>G | |
| NM_001146337.2:c.1811-2930C>G | NP_001139809.1:n.1811-2930C>G | |
| NM_001323062.1:c.1712-2930C>G | NP_001309991.1:n.1712-2930C>G | |
| NM_152406.3:c.1811-2930C>G | NP_689619.1:n.1811-2930C>G | |
| XM_011537558.2:c.1391-2930C>G | XP_011535860.1:n.1391-2930C>G | |
| XM_017009036.1:c.1709-2930C>G | XP_016864525.1:n.1709-2930C>G | |
| NM_152406.4:c.1811-2930C>G MANE Select | NP_689619.1:n.1811-2930C>G | |
| NM_001146337.3:c.1811-2930C>G | NP_001139809.1:n.1811-2930C>G | |
| NM_001323062.2:c.1712-2930C>G | NP_001309991.1:n.1712-2930C>G |