gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002314 (NFE)
Exomes Max Group AF
0.0000237 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49472472T>C , CM000672.2:g.49472472T>C | GRCh38 |
| NC_000010.10:g.50680518T>C , CM000672.1:g.50680518T>C | GRCh37 |
| NC_000010.9:g.50350524T>C | NCBI36 |
| NG_009442.1:g.71630A>G , LRG_465:g.71630A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2830-2A>G MANE Select | ENSP00000348089.5:n.2830-2A>G | |
| ENST00000681632.1:n.4231A>G | ||
| ENST00000681659.1:c.2671-2A>G | ENSP00000505631.1:n.2671-2A>G | |
| ENST00000355832.9:c.2830-2A>G | ENSP00000348089.5:n.2830-2A>G | |
| ENST00000623073.3:c.*1126-2A>G | ENSP00000485650.1:n.*1126-2A>G | |
| ENST00000623115.3:c.940-2A>G | ENSP00000485321.1:n.940-2A>G | |
| ENST00000624341.3:c.662-2A>G | ||
| NM_000124.3:c.2830-2A>G | NP_000115.1:n.2830-2A>G | |
| XR_945953.1:n.690-231T>C | ||
| NM_001346440.1:c.2830-2A>G | NP_001333369.1:n.2830-2A>G | |
| NM_000124.4:c.2830-2A>G MANE Select | NP_000115.1:n.2830-2A>G | |
| NM_001346440.2:c.2830-2A>G | NP_001333369.1:n.2830-2A>G |