gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61915382 (MID)
Genomes Max Group AF
0.57864139 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73707017A>G , CM000669.2:g.73707017A>G | GRCh38 |
| NC_000007.13:g.73121347A>G , CM000669.1:g.73121347A>G | GRCh37 |
| NC_000007.12:g.72759283A>G | NCBI36 |
| NG_013360.1:g.17671T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222812.8:c.208+1572T>C MANE Select | ENSP00000222812.3:n.208+1572T>C | |
| ENST00000222812.7:c.208+1572T>C | ENSP00000222812.3:n.208+1572T>C | |
| ENST00000395154.7:c.208+1572T>C | ENSP00000378583.3:n.208+1572T>C | |
| ENST00000395155.3:c.208+1572T>C | ENSP00000378584.3:n.208+1572T>C | |
| ENST00000395156.7:c.208+1572T>C | ENSP00000378585.3:n.208+1572T>C | |
| ENST00000462135.1:n.249+1572T>C | ||
| ENST00000470878.5:n.357+1572T>C | ||
| NM_001165903.1:c.208+1572T>C | NP_001159375.1:n.208+1572T>C | |
| NM_004603.3:c.208+1572T>C | NP_004594.1:n.208+1572T>C | |
| XM_011516541.1:c.121+1572T>C | XP_011514843.1:n.121+1572T>C | |
| XR_242263.1:n.279+1572T>C | ||
| XR_927527.1:n.279+1572T>C | ||
| XR_927528.1:n.332+1572T>C | ||
| XM_017012567.2:c.208+1572T>C | XP_016868056.1:n.208+1572T>C | |
| XR_242263.2:n.250+1572T>C | ||
| XR_927527.2:n.250+1572T>C | ||
| NM_004603.4:c.208+1572T>C MANE Select | NP_004594.1:n.208+1572T>C | |
| NM_001165903.2:c.208+1572T>C | NP_001159375.1:n.208+1572T>C |