Linked Data
dbSNP Id:
rs2084202
ExAC:
2:120125029 A / G
gnomAD v2:
2-120125029-A-G
gnomAD v3:
2-119367453-A-G
gnomAD v4:
2-119367453-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.119367453A>G , CM000664.2:g.119367453A>G | GRCh38 |
| NC_000002.11:g.120125029A>G , CM000664.1:g.120125029A>G | GRCh37 |
| NC_000002.10:g.119841499A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355857.8:c.9+393A>G MANE Select | ENSP00000348116.3:n.9+393A>G | |
| ENST00000311521.8:c.-26-106A>G | ENSP00000311117.4:n.-26-106A>G | |
| ENST00000355857.7:c.9+393A>G | ENSP00000348116.3:n.9+393A>G | |
| ENST00000409094.5:c.-26-106A>G | ENSP00000386486.1:n.-26-106A>G | |
| ENST00000460901.1:n.373A>G | ||
| ENST00000492375.1:n.126+393A>G | ||
| ENST00000535617.5:c.39+363A>G | ENSP00000442917.2:n.39+363A>G | |
| ENST00000535757.5:c.-26-106A>G | ENSP00000439012.1:n.-26-106A>G | |
| ENST00000542275.5:c.167A>G | ENSP00000440698.2:p.Glu56Gly | |
| ENST00000627093.2:c.60A>G | ENSP00000486281.1:p.Arg20= | |
| ENST00000627305.2:c.117A>G | ENSP00000486361.1:p.Arg39= | |
| NM_001079862.2:c.9+393A>G | NP_001073331.1:n.9+393A>G | |
| NM_001178017.1:c.117A>G | NP_001171488.1:p.Arg39= | |
| NM_001178041.2:c.60A>G | NP_001171512.1:p.Arg20= | |
| NM_001178042.2:c.-21-111A>G | NP_001171513.1:n.-21-111A>G | |
| NM_001178043.2:c.39+363A>G | NP_001171514.1:n.39+363A>G | |
| NM_001282633.1:c.-26-106A>G | NP_001269562.1:n.-26-106A>G | |
| NM_001282634.1:c.-26-106A>G | NP_001269563.1:n.-26-106A>G | |
| NM_001282635.1:c.-26-106A>G | NP_001269564.1:n.-26-106A>G | |
| NM_001282636.1:c.-64+239A>G | NP_001269565.1:n.-64+239A>G | |
| NM_020548.7:c.-21-111A>G | NP_065438.1:n.-21-111A>G | |
| NR_104221.1:n.406A>G | ||
| NM_001352432.1:c.-74A>G | NP_001339361.1:n.-74A>G | |
| NM_001079862.3:c.9+393A>G | NP_001073331.1:n.9+393A>G | |
| NM_001178017.3:c.117A>G | NP_001171488.1:p.Arg39= | |
| NM_001178041.3:c.60A>G | NP_001171512.1:p.Arg20= | |
| NM_001178042.3:c.-21-111A>G | NP_001171513.1:n.-21-111A>G | |
| NM_001178043.3:c.39+363A>G | NP_001171514.1:n.39+363A>G | |
| NM_001282633.2:c.-26-106A>G | NP_001269562.1:n.-26-106A>G | |
| NM_001282634.2:c.-26-106A>G | NP_001269563.1:n.-26-106A>G | |
| NM_001282635.2:c.-26-106A>G | NP_001269564.1:n.-26-106A>G | |
| NM_001282636.2:c.-64+239A>G | NP_001269565.1:n.-64+239A>G | |
| NM_001352432.2:c.-74A>G | NP_001339361.1:n.-74A>G | |
| NM_020548.8:c.-21-111A>G | NP_065438.1:n.-21-111A>G | |
| NM_001079862.4:c.9+393A>G MANE Select | NP_001073331.1:n.9+393A>G | |
| NM_001178041.4:c.60A>G | NP_001171512.1:p.Arg20= | |
| NM_001178042.4:c.-21-111A>G | NP_001171513.1:n.-21-111A>G | |
| NM_001178043.4:c.39+363A>G | NP_001171514.1:n.39+363A>G | |
| NM_001282633.3:c.-26-106A>G | NP_001269562.1:n.-26-106A>G | |
| NM_001282634.3:c.-26-106A>G | NP_001269563.1:n.-26-106A>G | |
| NM_001282635.3:c.-26-106A>G | NP_001269564.1:n.-26-106A>G | |
| NM_001282636.3:c.-64+239A>G | NP_001269565.1:n.-64+239A>G | |
| NM_001352432.3:c.-74A>G | NP_001339361.1:n.-74A>G | |
| NM_020548.9:c.-21-111A>G | NP_065438.1:n.-21-111A>G |