dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64657943 (NFE)
Genomes Max Group AF
0.64657943 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133839310A>C , CM000665.2:g.133839310A>C | GRCh38 |
| NC_000003.11:g.133558154A>C , CM000665.1:g.133558154A>C | GRCh37 |
| NC_000003.10:g.135040844A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285208.9:c.401+196T>G MANE Select | ENSP00000285208.4:n.401+196T>G | |
| ENST00000285208.8:c.401+196T>G | ENSP00000285208.4:n.401+196T>G | |
| ENST00000460865.3:c.239+196T>G | ENSP00000419526.3:n.239+196T>G | |
| ENST00000469959.1:c.96-11325T>G | ENSP00000418540.1:n.96-11325T>G | |
| ENST00000477759.5:c.302+196T>G | ENSP00000419941.1:n.302+196T>G | |
| ENST00000486858.5:c.362+196T>G | ENSP00000419381.1:n.362+196T>G | |
| ENST00000543906.5:c.401+196T>G | ENSP00000437797.1:n.401+196T>G | |
| NM_016577.3:c.401+196T>G | NP_057661.3:n.401+196T>G | |
| XM_011512893.1:c.362+196T>G | XP_011511195.1:n.362+196T>G | |
| NM_001363953.1:c.362+196T>G | NP_001350882.1:n.362+196T>G | |
| NM_016577.4:c.401+196T>G MANE Select | NP_057661.3:n.401+196T>G |