gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5587429 (AFR)
Genomes Max Group AF
0.5587429 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154326058C>G , CM000685.2:g.154326058C>G | GRCh38 |
| NC_000023.10:g.153554404C>G , CM000685.1:g.153554404C>G | GRCh37 |
| NC_000023.9:g.153207598C>G | NCBI36 |
| NG_028264.1:g.35378C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710264.1:c.1401+636C>G | ENSP00000518160.1:n.1401+636C>G | |
| ENST00000369915.8:c.1401+636C>G MANE Select | ENSP00000358931.3:n.1401+636C>G | |
| ENST00000369912.2:c.1233+636C>G | ENSP00000358928.2:n.1233+636C>G | |
| ENST00000369915.7:c.1401+636C>G | ENSP00000358931.3:n.1401+636C>G | |
| NM_001145933.1:c.1383+636C>G | NP_001139405.1:n.1383+636C>G | |
| NM_001145934.1:c.1233+636C>G | NP_001139406.1:n.1233+636C>G | |
| NM_012253.3:c.1401+636C>G | NP_036385.3:n.1401+636C>G | |
| NM_012253.4:c.1401+636C>G MANE Select | NP_036385.3:n.1401+636C>G | |
| NM_001145933.2:c.1383+636C>G | NP_001139405.1:n.1383+636C>G | |
| NM_001145934.2:c.1233+636C>G | NP_001139406.1:n.1233+636C>G |