gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15648119 (EAS)
Genomes Max Group AF
0.15648119 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.68361969T>G , CM000665.2:g.68361969T>G | GRCh38 |
| NC_000003.11:g.68411119T>G , CM000665.1:g.68411119T>G | GRCh37 |
| NC_000003.10:g.68493809T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478136.6:c.119-55311T>G MANE Select | ENSP00000418575.1:n.119-55311T>G | |
| ENST00000478136.5:c.119-55311T>G | ENSP00000418575.1:n.119-55311T>G | |
| ENST00000491017.1:n.507-55311T>G | ||
| ENST00000496687.1:c.119-55311T>G | ENSP00000417496.1:n.119-55311T>G | |
| NM_001252216.1:c.119-55311T>G | NP_001239145.1:n.119-55311T>G | |
| NM_213609.3:c.119-55311T>G | NP_998774.2:n.119-55311T>G | |
| XM_017006386.1:c.119-55311T>G | XP_016861875.1:n.119-55311T>G | |
| XM_017006387.2:c.119-55311T>G | XP_016861876.1:n.119-55311T>G | |
| XM_017006388.1:c.119-55314T>G | XP_016861877.1:n.119-55314T>G | |
| XM_017006389.1:c.119-55314T>G | XP_016861878.1:n.119-55314T>G | |
| XM_017006390.1:c.119-55314T>G | XP_016861879.1:n.119-55314T>G | |
| NM_213609.4:c.119-55311T>G MANE Select | NP_998774.2:n.119-55311T>G | |
| NM_001252216.2:c.119-55311T>G | NP_001239145.1:n.119-55311T>G |