gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19980787G>C , CM000664.2:g.19980787G>C | GRCh38 |
| NC_000002.11:g.20180548G>C , CM000664.1:g.20180548G>C | GRCh37 |
| NC_000002.10:g.20044029G>C | NCBI36 |
| NG_021212.1:g.14337C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.215-4C>G MANE Select | ENSP00000281405.5:n.215-4C>G | |
| ENST00000345530.8:c.215-4C>G MANE Plus Clinical | ENSP00000314444.5:n.215-4C>G | |
| ENST00000281405.8:c.215-4C>G | ENSP00000281405.4:n.215-4C>G | |
| ENST00000345530.7:c.215-4C>G | ENSP00000314444.5:n.215-4C>G | |
| ENST00000414212.5:c.215-4C>G | ENSP00000390802.1:n.215-4C>G | |
| NM_001006657.1:c.215-4C>G | NP_001006658.1:n.215-4C>G | |
| NM_020779.3:c.215-4C>G | NP_065830.2:n.215-4C>G | |
| XR_426989.2:n.248-4C>G | ||
| XR_939699.1:n.248-4C>G | ||
| XR_001738862.1:n.248-4C>G | ||
| XR_426989.3:n.248-4C>G | ||
| XR_939699.3:n.248-4C>G | ||
| NM_001006657.2:c.215-4C>G MANE Plus Clinical | NP_001006658.1:n.215-4C>G | |
| NM_020779.4:c.215-4C>G MANE Select | NP_065830.2:n.215-4C>G |