gnomAD v4:
Joint Max Group AF
0.00000191 (NFE)
Exomes Max Group AF
0.00000203 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173234737G>C , CM000667.2:g.173234737G>C | GRCh38 |
| NC_000005.9:g.172661740G>C , CM000667.1:g.172661740G>C | GRCh37 |
| NC_000005.8:g.172594346G>C | NCBI36 |
| NG_013340.1:g.5576C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.334+13C>G MANE Select | ENSP00000327758.4:n.334+13C>G | |
| ENST00000329198.4:c.334+13C>G | ENSP00000327758.4:n.334+13C>G | |
| ENST00000424406.2:c.334+13C>G | ENSP00000395378.2:n.334+13C>G | |
| ENST00000517440.1:c.334+13C>G | ENSP00000429905.1:n.334+13C>G | |
| ENST00000521848.1:c.334+13C>G | ENSP00000427906.1:n.334+13C>G | |
| NM_001166175.1:c.334+13C>G | NP_001159647.1:n.334+13C>G | |
| NM_001166176.1:c.334+13C>G | NP_001159648.1:n.334+13C>G | |
| NM_004387.3:c.334+13C>G | NP_004378.1:n.334+13C>G | |
| XM_017009071.2:c.334+13C>G | XP_016864560.1:n.334+13C>G | |
| NM_004387.4:c.334+13C>G MANE Select | NP_004378.1:n.334+13C>G | |
| NM_001166175.2:c.334+13C>G | NP_001159647.1:n.334+13C>G | |
| NM_001166176.2:c.334+13C>G | NP_001159648.1:n.334+13C>G |