Linked Data
ClinVar Variation Id:
1227242
dbSNP Id:
rs535076039
ExAC:
3:9517340 C / A
gnomAD v2:
3-9517340-C-A
gnomAD v3:
3-9475656-C-A
gnomAD v4:
3-9475656-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9475656C>A , CM000665.2:g.9475656C>A | GRCh38 |
| NC_000003.11:g.9517340C>A , CM000665.1:g.9517340C>A | GRCh37 |
| NC_000003.10:g.9492340C>A | NCBI36 |
| NG_034132.1:g.82957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682236.1:n.2849C>A | ||
| ENST00000682536.1:c.3990C>A | ENSP00000507956.1:p.Ser1330= | |
| ENST00000687014.1:n.4883C>A | ||
| ENST00000689167.1:n.2274C>A | ||
| ENST00000691925.1:n.6691C>A | ||
| ENST00000693430.1:n.6136C>A | ||
| ENST00000402198.7:c.3894C>A MANE Select | ENSP00000385852.2:p.Ser1298= | |
| ENST00000663774.1:c.*4040C>A | ENSP00000499452.1:n.*4040C>A | |
| ENST00000665872.1:c.*3963C>A | ENSP00000499600.1:n.*3963C>A | |
| ENST00000666307.1:c.*4268C>A | ENSP00000499402.1:n.*4268C>A | |
| ENST00000670063.1:c.*3999C>A | ENSP00000499725.1:n.*3999C>A | |
| ENST00000302463.10:c.3600C>A | ENSP00000302028.6:p.Ser1200= | |
| ENST00000399686.6:c.2722+500C>A | ||
| ENST00000402198.5:c.3894C>A | ENSP00000385852.1:p.Ser1298= | |
| ENST00000406341.5:c.3894C>A | ENSP00000383939.1:p.Ser1298= | |
| ENST00000407969.5:c.3951C>A | ENSP00000384114.1:p.Ser1317= | |
| ENST00000413704.5:c.2930C>A | ||
| ENST00000459941.1:n.1025C>A | ||
| ENST00000466242.5:n.3235C>A | ||
| ENST00000466826.1:n.281C>A | ||
| ENST00000493918.5:n.4058C>A | ||
| NM_001080517.2:c.3894C>A | NP_001073986.1:p.Ser1298= | |
| NM_001292043.1:c.3600C>A | NP_001278972.1:p.Ser1200= | |
| XM_005265301.1:c.3951C>A | XP_005265358.1:p.Ser1317= | |
| XM_005265303.1:c.3894C>A | XP_005265360.1:p.Ser1298= | |
| XM_011533920.1:c.4068C>A | XP_011532222.1:p.Ser1356= | |
| XM_011533921.1:c.4068C>A | XP_011532223.1:p.Ser1356= | |
| XM_011533922.1:c.4047C>A | XP_011532224.1:p.Ser1349= | |
| XM_011533923.1:c.4047C>A | XP_011532225.1:p.Ser1349= | |
| XM_011533924.1:c.4047C>A | XP_011532226.1:p.Ser1349= | |
| XM_011533925.1:c.4029C>A | XP_011532227.1:p.Ser1343= | |
| XM_011533926.1:c.4011C>A | XP_011532228.1:p.Ser1337= | |
| XM_011533927.1:c.4011C>A | XP_011532229.1:p.Ser1337= | |
| XM_011533928.1:c.3990C>A | XP_011532230.1:p.Ser1330= | |
| XM_011533929.1:c.3972C>A | XP_011532231.1:p.Ser1324= | |
| XM_011533930.1:c.3933C>A | XP_011532232.1:p.Ser1311= | |
| XM_011533931.1:c.3657C>A | XP_011532233.1:p.Ser1219= | |
| XM_011533932.1:c.3618C>A | XP_011532234.1:p.Ser1206= | |
| XM_011533933.1:c.3618C>A | XP_011532235.1:p.Ser1206= | |
| NM_001349451.1:c.3600C>A | NP_001336380.1:p.Ser1200= | |
| XM_011533921.2:c.4068C>A | XP_011532223.1:p.Ser1356= | |
| XM_017006767.1:c.4068C>A | XP_016862256.1:p.Ser1356= | |
| XM_017006768.2:c.4047C>A | XP_016862257.1:p.Ser1349= | |
| XM_017006770.1:c.4011C>A | XP_016862259.1:p.Ser1337= | |
| XM_017006771.1:c.4008C>A | XP_016862260.1:p.Ser1336= | |
| XM_017006772.1:c.3972C>A | XP_016862261.1:p.Ser1324= | |
| XM_017006773.1:c.3972C>A | XP_016862262.1:p.Ser1324= | |
| XM_017006774.1:c.3951C>A | XP_016862263.1:p.Ser1317= | |
| XM_017006775.1:c.3915C>A | XP_016862264.1:p.Ser1305= | |
| XM_017006776.1:c.3657C>A | XP_016862265.1:p.Ser1219= | |
| XM_017006777.1:c.3657C>A | XP_016862266.1:p.Ser1219= | |
| XM_017006778.1:c.3657C>A | XP_016862267.1:p.Ser1219= | |
| XM_017006779.1:c.3618C>A | XP_016862268.1:p.Ser1206= | |
| XM_017006780.1:c.3618C>A | XP_016862269.1:p.Ser1206= | |
| XM_017006783.1:c.3390C>A | XP_016862272.1:p.Ser1130= | |
| XM_024453620.1:c.4029C>A | XP_024309388.1:p.Ser1343= | |
| XM_024453621.1:c.3705C>A | XP_024309389.1:p.Ser1235= | |
| XR_001740195.2:n.8277C>A | ||
| NM_001080517.3:c.3894C>A MANE Select | NP_001073986.1:p.Ser1298= | |
| NM_001292043.2:c.3600C>A | NP_001278972.1:p.Ser1200= | |
| NM_001349451.2:c.3600C>A | NP_001336380.1:p.Ser1200= |