gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36355724 (NFE)
Genomes Max Group AF
0.36355724 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97933921T>C , CM000671.2:g.97933921T>C | GRCh38 |
| NC_000009.11:g.100696203T>C , CM000671.1:g.100696203T>C | GRCh37 |
| NC_000009.10:g.99736024T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616898.2:c.173+2250A>G MANE Select | ENSP00000480020.1:n.173+2250A>G | |
| ENST00000259456.7:c.173+2250A>G | ENSP00000259456.2:n.173+2250A>G | |
| ENST00000616898.1:c.173+2250A>G | ENSP00000480020.1:n.173+2250A>G | |
| NM_018437.4:c.173+2250A>G | NP_060907.2:n.173+2250A>G | |
| NM_197978.2:c.173+2250A>G | NP_932095.1:n.173+2250A>G | |
| XM_005252086.1:c.173+2250A>G | XP_005252143.1:n.173+2250A>G | |
| XM_011518845.1:c.173+2250A>G | XP_011517147.1:n.173+2250A>G | |
| XM_011518846.1:c.173+2250A>G | XP_011517148.1:n.173+2250A>G | |
| NM_197978.3:c.173+2250A>G MANE Select | NP_932095.1:n.173+2250A>G | |
| NM_018437.5:c.173+2250A>G | NP_060907.2:n.173+2250A>G |