Linked Data
dbSNP Id:
rs873785
gnomAD v2:
4-925149-T-C
gnomAD v3:
4-931361-T-C
gnomAD v4:
4-931361-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.931361T>C , CM000666.2:g.931361T>C | GRCh38 |
| NC_000004.11:g.925149T>C , CM000666.1:g.925149T>C | GRCh37 |
| NC_000004.10:g.915149T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314167.9:c.145+682A>G MANE Select | ENSP00000314499.4:n.145+682A>G | |
| ENST00000314167.8:c.145+682A>G | ENSP00000314499.4:n.145+682A>G | |
| ENST00000502656.5:c.145+682A>G | ENSP00000424701.1:n.145+682A>G | |
| ENST00000505819.5:c.145+682A>G | ENSP00000426908.1:n.145+682A>G | |
| ENST00000507580.5:c.145+682A>G | ENSP00000426728.1:n.145+682A>G | |
| ENST00000511163.5:c.145+682A>G | ENSP00000421361.1:n.145+682A>G | |
| ENST00000512325.3:c.145+682A>G | ENSP00000421814.1:n.145+682A>G | |
| ENST00000513935.1:n.178+682A>G | ||
| ENST00000618573.4:c.117+710A>G | ENSP00000484475.1:n.117+710A>G | |
| ENST00000628912.1:c.145+682A>G | ENSP00000486984.1:n.145+682A>G | |
| NM_001286833.1:c.145+682A>G | NP_001273762.1:n.145+682A>G | |
| NM_005255.2:c.145+682A>G | NP_005246.2:n.145+682A>G | |
| XM_005272268.1:c.145+682A>G | XP_005272325.1:n.145+682A>G | |
| XM_005272270.1:c.145+682A>G | XP_005272327.1:n.145+682A>G | |
| XM_011513425.1:c.145+682A>G | XP_011511727.1:n.145+682A>G | |
| XM_011513426.1:c.145+682A>G | XP_011511728.1:n.145+682A>G | |
| XM_011513427.1:c.145+682A>G | XP_011511729.1:n.145+682A>G | |
| XM_011513428.1:c.145+682A>G | XP_011511730.1:n.145+682A>G | |
| XM_011513430.1:c.145+682A>G | XP_011511732.1:n.145+682A>G | |
| XM_011513431.1:c.145+682A>G | XP_011511733.1:n.145+682A>G | |
| XM_011513433.1:c.145+682A>G | XP_011511735.1:n.145+682A>G | |
| XM_011513434.1:c.-89+682A>G | XP_011511736.1:n.-89+682A>G | |
| NM_001318134.1:c.145+682A>G | NP_001305063.1:n.145+682A>G | |
| NM_005255.3:c.145+682A>G | NP_005246.2:n.145+682A>G | |
| XM_005272268.2:c.145+682A>G | XP_005272325.1:n.145+682A>G | |
| XM_005272270.2:c.145+682A>G | XP_005272327.1:n.145+682A>G | |
| XM_011513425.2:c.145+682A>G | XP_011511727.1:n.145+682A>G | |
| XM_011513426.2:c.145+682A>G | XP_011511728.1:n.145+682A>G | |
| XM_011513427.2:c.145+682A>G | XP_011511729.1:n.145+682A>G | |
| XM_011513428.2:c.145+682A>G | XP_011511730.1:n.145+682A>G | |
| XM_011513431.2:c.145+682A>G | XP_011511733.1:n.145+682A>G | |
| XM_011513434.2:c.-89+682A>G | XP_011511736.1:n.-89+682A>G | |
| XM_017007991.1:c.145+682A>G | XP_016863480.1:n.145+682A>G | |
| XM_017007992.1:c.145+682A>G | XP_016863481.1:n.145+682A>G | |
| XM_017007994.1:c.145+682A>G | XP_016863483.1:n.145+682A>G | |
| XM_017007995.1:c.-385+682A>G | XP_016863484.1:n.-385+682A>G | |
| NM_005255.4:c.145+682A>G MANE Select | NP_005246.2:n.145+682A>G | |
| NM_001318134.2:c.145+682A>G | NP_001305063.1:n.145+682A>G |