Linked Data
dbSNP Id:
rs11842874
gnomAD v2:
13-113694509-A-G
gnomAD v3:
13-113040195-A-G
gnomAD v4:
13-113040195-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113040195A>G , CM000675.2:g.113040195A>G | GRCh38 |
| NC_000013.10:g.113694509A>G , CM000675.1:g.113694509A>G | GRCh37 |
| NC_000013.9:g.112742510A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420013.6:c.252-5076A>G | ENSP00000404422.2:n.252-5076A>G | |
| ENST00000453297.6:c.279-5076A>G | ENSP00000392953.2:n.279-5076A>G | |
| ENST00000704386.1:c.252-5076A>G | ENSP00000515888.1:n.252-5076A>G | |
| ENST00000535094.7:c.279-5076A>G MANE Select | ENSP00000440374.2:n.279-5076A>G | |
| ENST00000375597.8:c.273-5076A>G | ENSP00000364747.4:n.273-5076A>G | |
| ENST00000375604.6:c.273-5076A>G | ENSP00000364754.3:n.273-5076A>G | |
| ENST00000375608.7:c.369-5076A>G | ENSP00000364758.3:n.369-5076A>G | |
| ENST00000397030.5:c.378-5076A>G | ENSP00000380225.1:n.378-5076A>G | |
| ENST00000409954.6:c.192-5076A>G | ENSP00000386551.2:n.192-5076A>G | |
| ENST00000421756.5:c.291-5076A>G | ENSP00000397285.1:n.291-5076A>G | |
| ENST00000473345.5:c.62-5076A>G | ||
| ENST00000535094.6:c.279-5076A>G | ENSP00000440374.2:n.279-5076A>G | |
| NM_001112732.2:c.279-5076A>G | NP_001106203.2:n.279-5076A>G | |
| NM_024979.4:c.273-5076A>G | NP_079255.4:n.273-5076A>G | |
| XM_005268309.2:c.369-5076A>G | XP_005268366.1:n.369-5076A>G | |
| XM_005268314.2:c.291-5076A>G | XP_005268371.1:n.291-5076A>G | |
| XM_005268316.1:c.273-5076A>G | XP_005268373.1:n.273-5076A>G | |
| XM_011537482.1:c.369-5076A>G | XP_011535784.1:n.369-5076A>G | |
| XM_011537483.1:c.369-5076A>G | XP_011535785.1:n.369-5076A>G | |
| XM_011537484.1:c.291-5076A>G | XP_011535786.1:n.291-5076A>G | |
| XM_011537485.1:c.279-5076A>G | XP_011535787.1:n.279-5076A>G | |
| XM_011537486.1:c.276-5076A>G | XP_011535788.1:n.276-5076A>G | |
| XM_011537487.1:c.273-5076A>G | XP_011535789.1:n.273-5076A>G | |
| XM_011537488.1:c.225-5076A>G | XP_011535790.1:n.225-5076A>G | |
| XM_011537489.1:c.369-5076A>G | XP_011535791.1:n.369-5076A>G | |
| XM_011537490.1:c.192-5076A>G | XP_011535792.1:n.192-5076A>G | |
| XM_011537492.1:c.369-5076A>G | XP_011535794.1:n.369-5076A>G | |
| XM_011537493.1:c.276-5076A>G | XP_011535795.1:n.276-5076A>G | |
| NM_001320815.1:c.273-5076A>G | NP_001307744.1:n.273-5076A>G | |
| NM_001320816.1:c.291-5076A>G | NP_001307745.1:n.291-5076A>G | |
| NM_001320817.1:c.273-5076A>G | NP_001307746.1:n.273-5076A>G | |
| NM_001366644.1:c.192-5076A>G | NP_001353573.1:n.192-5076A>G | |
| XM_011537483.2:c.369-5076A>G | XP_011535785.1:n.369-5076A>G | |
| XM_011537486.2:c.450-5076A>G | XP_011535788.2:n.450-5076A>G | |
| XM_017020493.1:c.450-5076A>G | XP_016875982.1:n.450-5076A>G | |
| XM_017020494.1:c.297-5076A>G | XP_016875983.1:n.297-5076A>G | |
| XM_017020495.1:c.450-5076A>G | XP_016875984.1:n.450-5076A>G | |
| XM_017020499.2:c.450-5076A>G | XP_016875988.1:n.450-5076A>G | |
| NM_001112732.3:c.279-5076A>G MANE Select | NP_001106203.2:n.279-5076A>G | |
| NM_001320815.2:c.273-5076A>G | NP_001307744.1:n.273-5076A>G | |
| NM_001320816.2:c.291-5076A>G | NP_001307745.1:n.291-5076A>G | |
| NM_001320817.2:c.273-5076A>G | NP_001307746.1:n.273-5076A>G | |
| NM_001366644.2:c.192-5076A>G | NP_001353573.1:n.192-5076A>G |