Linked Data
ClinVar Variation Id:
720817
ClinVar RCV Id:
RCV000894197
dbSNP Id:
rs118153230
ExAC:
10:34630570 C / T
gnomAD v2:
10-34630570-C-T
gnomAD v3:
10-34341642-C-T
gnomAD v4:
10-34341642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.34341642C>T , CM000672.2:g.34341642C>T | GRCh38 |
| NC_000010.10:g.34630570C>T , CM000672.1:g.34630570C>T | GRCh37 |
| NC_000010.9:g.34670576C>T | NCBI36 |
| NG_052602.1:g.478684G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696673.1:c.2321G>A | ENSP00000512797.1:p.Ser774Asn | |
| ENST00000346874.9:c.2402G>A | ENSP00000340591.4:p.Ser801Asn | |
| ENST00000350537.9:c.2354G>A | ENSP00000311986.6:p.Ser785Asn | |
| ENST00000374773.6:c.2393G>A | ENSP00000363905.1:p.Ser798Asn | |
| ENST00000374776.6:c.2354G>A | ENSP00000363908.1:p.Ser785Asn | |
| ENST00000374788.8:c.2393G>A MANE Select | ENSP00000363920.3:p.Ser798Asn | |
| ENST00000374789.8:c.2402G>A | ENSP00000363921.3:p.Ser801Asn | |
| ENST00000374790.8:c.2222G>A | ENSP00000363922.3:p.Ser741Asn | |
| ENST00000374794.8:c.2222G>A | ENSP00000363926.3:p.Ser741Asn | |
| ENST00000340077.9:c.2393G>A | ENSP00000341844.5:p.Ser798Asn | |
| ENST00000346874.8:c.2402G>A | ENSP00000340591.4:p.Ser801Asn | |
| ENST00000350537.8:c.2354G>A | ENSP00000311986.6:p.Ser785Asn | |
| ENST00000374773.5:c.2393G>A | ENSP00000363905.1:p.Ser798Asn | |
| ENST00000374776.5:c.2354G>A | ENSP00000363908.1:p.Ser785Asn | |
| ENST00000374788.7:c.2393G>A | ENSP00000363920.3:p.Ser798Asn | |
| ENST00000374789.7:c.2402G>A | ENSP00000363921.3:p.Ser801Asn | |
| ENST00000374790.7:c.2222G>A | ENSP00000363922.3:p.Ser741Asn | |
| ENST00000374794.7:c.2222G>A | ENSP00000363926.3:p.Ser741Asn | |
| ENST00000544292.5:c.1544G>A | ENSP00000444429.1:p.Ser515Asn | |
| ENST00000545260.5:c.2222G>A | ENSP00000440857.1:p.Ser741Asn | |
| ENST00000545693.5:c.2354G>A | ENSP00000443147.1:p.Ser785Asn | |
| NM_001184785.1:c.2393G>A | NP_001171714.1:p.Ser798Asn | |
| NM_001184786.1:c.2354G>A | NP_001171715.1:p.Ser785Asn | |
| NM_001184787.1:c.2402G>A | NP_001171716.1:p.Ser801Asn | |
| NM_001184788.1:c.2354G>A | NP_001171717.1:p.Ser785Asn | |
| NM_001184789.1:c.2354G>A | NP_001171718.1:p.Ser785Asn | |
| NM_001184790.1:c.2222G>A | NP_001171719.1:p.Ser741Asn | |
| NM_001184791.1:c.2222G>A | NP_001171720.1:p.Ser741Asn | |
| NM_001184792.1:c.2393G>A | NP_001171721.1:p.Ser798Asn | |
| NM_001184793.1:c.2393G>A | NP_001171722.1:p.Ser798Asn | |
| NM_001184794.1:c.2354G>A | NP_001171723.1:p.Ser785Asn | |
| NM_019619.3:c.2402G>A | NP_062565.2:p.Ser801Asn | |
| XM_005252528.3:c.2393G>A | XP_005252585.1:p.Ser798Asn | |
| XM_005252530.3:c.2393G>A | XP_005252587.1:p.Ser798Asn | |
| XM_005252531.3:c.2393G>A | XP_005252588.1:p.Ser798Asn | |
| XM_005252532.3:c.2261G>A | XP_005252589.1:p.Ser754Asn | |
| XM_005252534.3:c.2393G>A | XP_005252591.1:p.Ser798Asn | |
| XM_005252535.3:c.2354G>A | XP_005252592.1:p.Ser785Asn | |
| XM_011519569.1:c.2402G>A | XP_011517871.1:p.Ser801Asn | |
| XM_011519570.1:c.2363G>A | XP_011517872.1:p.Ser788Asn | |
| XM_011519571.1:c.2402G>A | XP_011517873.1:p.Ser801Asn | |
| XM_011519572.1:c.2402G>A | XP_011517874.1:p.Ser801Asn | |
| XM_011519573.1:c.2402G>A | XP_011517875.1:p.Ser801Asn | |
| XM_011519574.1:c.2306G>A | XP_011517876.1:p.Ser769Asn | |
| XM_011519575.1:c.2300G>A | XP_011517877.1:p.Ser767Asn | |
| XM_011519576.1:c.2270G>A | XP_011517878.1:p.Ser757Asn | |
| XM_011519577.1:c.2234G>A | XP_011517879.1:p.Ser745Asn | |
| XM_011519578.1:c.2231G>A | XP_011517880.1:p.Ser744Asn | |
| XM_011519579.1:c.2168G>A | XP_011517881.1:p.Ser723Asn | |
| XM_011519580.1:c.2402G>A | XP_011517882.1:p.Ser801Asn | |
| XM_011519581.1:c.2402G>A | XP_011517883.1:p.Ser801Asn | |
| XM_011519582.1:c.1592G>A | XP_011517884.1:p.Ser531Asn | |
| XM_011519583.1:c.2402G>A | XP_011517885.1:p.Ser801Asn | |
| NM_001184785.2:c.2393G>A MANE Select | NP_001171714.1:p.Ser798Asn | |
| NM_001184787.2:c.2402G>A | NP_001171716.1:p.Ser801Asn | |
| NM_001184788.2:c.2354G>A | NP_001171717.1:p.Ser785Asn | |
| NM_001184789.2:c.2354G>A | NP_001171718.1:p.Ser785Asn | |
| NM_001184791.2:c.2222G>A | NP_001171720.1:p.Ser741Asn | |
| NM_001184793.2:c.2393G>A | NP_001171722.1:p.Ser798Asn | |
| NM_001184794.2:c.2354G>A | NP_001171723.1:p.Ser785Asn | |
| NM_019619.4:c.2402G>A | NP_062565.2:p.Ser801Asn | |
| NM_001184786.2:c.2354G>A | NP_001171715.1:p.Ser785Asn | |
| NM_001184790.2:c.2222G>A | NP_001171719.1:p.Ser741Asn | |
| NM_001184792.2:c.2393G>A | NP_001171721.1:p.Ser798Asn |