gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29667858 (EAS)
Genomes Max Group AF
0.29667858 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26727939T>C , CM000677.2:g.26727939T>C | GRCh38 |
| NC_000015.9:g.26973086T>C , CM000677.1:g.26973086T>C | GRCh37 |
| NC_000015.8:g.24524179T>C | NCBI36 |
| NG_012836.1:g.50842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.240+44463A>G | ENSP00000299267.4:n.240+44463A>G | |
| ENST00000311550.10:c.240+44463A>G MANE Select | ENSP00000308725.5:n.240+44463A>G | |
| ENST00000636466.1:c.-16+44060A>G | ENSP00000489768.1:n.-16+44060A>G | |
| ENST00000638099.1:c.141+44463A>G | ENSP00000490678.1:n.141+44463A>G | |
| ENST00000299267.8:c.240+44463A>G | ENSP00000299267.4:n.240+44463A>G | |
| ENST00000311550.9:c.240+44463A>G | ENSP00000308725.5:n.240+44463A>G | |
| ENST00000541819.6:c.408+44463A>G | ENSP00000442408.2:n.408+44463A>G | |
| ENST00000545868.4:c.-16+39213A>G | ENSP00000439169.1:n.-16+39213A>G | |
| ENST00000554556.5:c.240+44463A>G | ENSP00000451077.1:n.240+44463A>G | |
| ENST00000555632.5:c.240+44463A>G | ENSP00000452041.1:n.240+44463A>G | |
| ENST00000622697.4:c.-112+44463A>G | ENSP00000481004.1:n.-112+44463A>G | |
| NM_000814.5:c.240+44463A>G | NP_000805.1:n.240+44463A>G | |
| NM_001278631.1:c.-112+44463A>G | NP_001265560.1:n.-112+44463A>G | |
| NM_021912.4:c.240+44463A>G | NP_068712.1:n.240+44463A>G | |
| NM_000814.6:c.240+44463A>G MANE Select | NP_000805.1:n.240+44463A>G | |
| NM_021912.5:c.240+44463A>G | NP_068712.1:n.240+44463A>G | |
| NM_001278631.2:c.-112+44463A>G | NP_001265560.1:n.-112+44463A>G |