Linked Data
dbSNP Id:
rs11466617
gnomAD v2:
4-38780471-T-C
gnomAD v3:
4-38778850-T-C
gnomAD v4:
4-38778850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38778850T>C , CM000666.2:g.38778850T>C | GRCh38 |
| NC_000004.11:g.38780471T>C , CM000666.1:g.38780471T>C | GRCh37 |
| NC_000004.10:g.38456866T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308973.9:c.-568-2424A>G MANE Select | ENSP00000308925.4:n.-568-2424A>G | |
| ENST00000308973.8:c.-568-2424A>G | ENSP00000308925.4:n.-568-2424A>G | |
| ENST00000361424.6:c.-62-3198A>G | ENSP00000354459.2:n.-62-3198A>G | |
| ENST00000502321.5:c.-324-2424A>G | ENSP00000427606.1:n.-324-2424A>G | |
| ENST00000507953.1:n.151+121A>G | ||
| ENST00000613579.4:c.-379-2424A>G | ENSP00000478206.1:n.-379-2424A>G | |
| ENST00000622002.4:c.-251-2887A>G | ENSP00000478985.1:n.-251-2887A>G | |
| NM_001017388.2:c.-62-3198A>G | NP_001017388.1:n.-62-3198A>G | |
| NM_001195106.1:c.-379-2424A>G | NP_001182035.1:n.-379-2424A>G | |
| NM_001195107.1:c.-251-2887A>G | NP_001182036.1:n.-251-2887A>G | |
| NM_001195108.1:c.-324-2424A>G | NP_001182037.1:n.-324-2424A>G | |
| NM_030956.3:c.-568-2424A>G | NP_112218.2:n.-568-2424A>G | |
| XM_011513760.1:c.-7-3295A>G | XP_011512062.1:n.-7-3295A>G | |
| XM_011513761.1:c.-569+121A>G | XP_011512063.1:n.-569+121A>G | |
| XM_011513762.1:c.-349-2643A>G | XP_011512064.1:n.-349-2643A>G | |
| XM_011513760.2:c.-7-3295A>G | XP_011512062.1:n.-7-3295A>G | |
| XM_011513761.2:c.-569+121A>G | XP_011512063.1:n.-569+121A>G | |
| XM_011513762.2:c.-349-2643A>G | XP_011512064.1:n.-349-2643A>G | |
| NM_030956.4:c.-568-2424A>G MANE Select | NP_112218.2:n.-568-2424A>G | |
| NM_001195108.2:c.-324-2424A>G | NP_001182037.1:n.-324-2424A>G | |
| NM_001017388.3:c.-62-3198A>G | NP_001017388.1:n.-62-3198A>G | |
| NM_001195106.2:c.-379-2424A>G | NP_001182035.1:n.-379-2424A>G | |
| NM_001195107.2:c.-251-2887A>G | NP_001182036.1:n.-251-2887A>G |