gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29277091 (EAS)
Genomes Max Group AF
0.29277091 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102481086A>G , CM000674.2:g.102481086A>G | GRCh38 |
| NC_000012.11:g.102874864A>G , CM000674.1:g.102874864A>G | GRCh37 |
| NC_000012.10:g.101398994A>G | NCBI36 |
| NG_011713.1:g.4515T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644491.1:c.-20+617T>C | ENSP00000494228.1:n.-20+617T>C | |
| XR_944536.1:n.84+617T>C | ||
| XM_017019259.1:c.114+617T>C | XP_016874748.1:n.114+617T>C | |
| XM_017019262.2:c.114+617T>C | XP_016874751.1:n.114+617T>C | |
| XM_017019263.2:c.114+617T>C | XP_016874752.1:n.114+617T>C |