Linked Data
ClinVar Variation Id:
93787
dbSNP Id:
rs1635553
ExAC:
12:48375568 A / G
gnomAD v2:
12-48375568-A-G
gnomAD v3:
12-47981785-A-G
gnomAD v4:
12-47981785-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47981785A>G , CM000674.2:g.47981785A>G | GRCh38 |
| NC_000012.11:g.48375568A>G , CM000674.1:g.48375568A>G | GRCh37 |
| NC_000012.10:g.46661835A>G | NCBI36 |
| NG_008072.1:g.27718T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337299.7:c.2193T>C | ENSP00000338213.6:p.Asn731= | |
| ENST00000380518.8:c.2400T>C MANE Select | ENSP00000369889.3:p.Asn800= | |
| ENST00000337299.6:c.2193T>C | ENSP00000338213.6:p.Asn731= | |
| ENST00000380518.7:c.2400T>C | ENSP00000369889.3:p.Asn800= | |
| ENST00000483376.1:n.578T>C | ||
| ENST00000493991.5:n.1486T>C | ||
| NM_001844.4:c.2400T>C | NP_001835.3:p.Asn800= | |
| NM_033150.2:c.2193T>C | NP_149162.2:p.Asn731= | |
| XM_006719242.2:c.2544T>C | XP_006719305.2:p.Asn848= | |
| XM_011537928.1:c.2544T>C | XP_011536230.1:p.Asn848= | |
| XM_011537929.1:c.2544T>C | XP_011536231.1:p.Asn848= | |
| XM_011537930.1:c.2544T>C | XP_011536232.1:p.Asn848= | |
| XM_011537931.1:c.2544T>C | XP_011536233.1:p.Asn848= | |
| XM_011537932.1:c.2544T>C | XP_011536234.1:p.Asn848= | |
| XM_011537933.1:c.2544T>C | XP_011536235.1:p.Asn848= | |
| XM_011537934.1:c.2541T>C | XP_011536236.1:p.Asn847= | |
| XM_011537935.1:c.1488T>C | XP_011536237.1:p.Asn496= | |
| XR_944910.1:n.208+359A>G | ||
| XM_017018828.1:c.2544T>C | XP_016874317.1:p.Asn848= | |
| XM_017018829.1:c.2541T>C | XP_016874318.1:p.Asn847= | |
| XM_017018830.1:c.2334T>C | XP_016874319.1:p.Asn778= | |
| XM_017018831.2:c.1854T>C | XP_016874320.1:p.Asn618= | |
| NM_001844.5:c.2400T>C MANE Select | NP_001835.3:p.Asn800= | |
| NM_033150.3:c.2193T>C | NP_149162.2:p.Asn731= |