gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49245305 (NFE)
Genomes Max Group AF
0.49245305 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165751236T>C , CM000664.2:g.165751236T>C | GRCh38 |
| NC_000002.11:g.166607746T>C , CM000664.1:g.166607746T>C | GRCh37 |
| NC_000002.10:g.166315992T>C | NCBI36 |
| NG_012069.1:g.48058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.1627-1342A>G MANE Select | ENSP00000376465.3:n.1627-1342A>G | |
| ENST00000392701.7:c.1627-1342A>G | ENSP00000376465.3:n.1627-1342A>G | |
| ENST00000409882.5:c.841-1342A>G | ENSP00000386955.1:n.841-1342A>G | |
| NM_004482.3:c.1627-1342A>G | NP_004473.2:n.1627-1342A>G | |
| XM_005246449.1:c.1627-1342A>G | XP_005246506.1:n.1627-1342A>G | |
| XM_011510929.1:c.1627-1342A>G | XP_011509231.1:n.1627-1342A>G | |
| XM_017003770.1:c.1627-1342A>G | XP_016859259.1:n.1627-1342A>G | |
| XR_002959253.1:n.1903-1342A>G | ||
| NM_004482.4:c.1627-1342A>G MANE Select | NP_004473.2:n.1627-1342A>G |