gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88183151 (NFE)
Genomes Max Group AF
0.88183151 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75324027T>C , CM000675.2:g.75324027T>C | GRCh38 |
| NC_000013.10:g.75898163T>C , CM000675.1:g.75898163T>C | GRCh37 |
| NC_000013.9:g.74796164T>C | NCBI36 |
| NG_042850.1:g.163142A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377636.8:c.2198+210A>G MANE Select | ENSP00000366863.3:n.2198+210A>G | |
| ENST00000648194.1:c.1490+2170A>G | ENSP00000496983.1:n.1490+2170A>G | |
| ENST00000377625.6:c.2033+2170A>G | ENSP00000366852.2:n.2033+2170A>G | |
| ENST00000377636.7:c.2198+210A>G | ENSP00000366863.3:n.2198+210A>G | |
| ENST00000413735.1:c.569+2170A>G | ENSP00000396932.1:n.569+2170A>G | |
| ENST00000431480.6:c.2198+210A>G | ENSP00000395986.2:n.2198+210A>G | |
| ENST00000488955.1:n.219+210A>G | ||
| NM_001286658.1:c.2198+210A>G | NP_001273587.1:n.2198+210A>G | |
| NM_001286658.2:c.2198+210A>G | NP_001273587.1:n.2198+210A>G | |
| NM_001286659.1:c.2033+2170A>G | NP_001273588.1:n.2033+2170A>G | |
| NM_001286659.2:c.2033+2170A>G | NP_001273588.1:n.2033+2170A>G | |
| NM_014832.3:c.2198+210A>G | NP_055647.2:n.2198+210A>G | |
| NM_014832.4:c.2198+210A>G | NP_055647.2:n.2198+210A>G | |
| XM_005266603.1:c.2123+210A>G | XP_005266660.1:n.2123+210A>G | |
| XM_005266605.1:c.1655+210A>G | XP_005266662.1:n.1655+210A>G | |
| XM_006719903.2:c.1724+210A>G | XP_006719966.1:n.1724+210A>G | |
| XM_011535331.1:c.2087+210A>G | XP_011533633.1:n.2087+210A>G | |
| XM_005266603.2:c.2123+210A>G | XP_005266660.1:n.2123+210A>G | |
| XM_005266605.3:c.1655+210A>G | XP_005266662.1:n.1655+210A>G | |
| XM_006719903.3:c.1724+210A>G | XP_006719966.1:n.1724+210A>G | |
| XM_011535331.2:c.2087+210A>G | XP_011533633.1:n.2087+210A>G | |
| XM_017020882.2:c.1490+2170A>G | XP_016876371.1:n.1490+2170A>G | |
| XM_017020883.2:c.1379+2170A>G | XP_016876372.1:n.1379+2170A>G | |
| NM_014832.5:c.2198+210A>G MANE Select | NP_055647.2:n.2198+210A>G |