Linked Data
ClinVar Variation Id:
635363
ClinVar RCV Id:
RCV000786785
dbSNP Id:
rs1583439000
gnomAD v4:
6-157167185-G-T
MutSpliceDB:
CA366389648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157167185G>T , CM000668.2:g.157167185G>T | GRCh38 |
| NC_000006.11:g.157488319G>T , CM000668.1:g.157488319G>T | GRCh37 |
| NC_000006.10:g.157530011G>T | NCBI36 |
| NG_032093.1:g.394256G>T | |
| NG_032093.2:g.394256G>T | |
| NG_066624.1:g.396160G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3235G>T | ENSP00000055163.8:p.Ala1079Ser | |
| ENST00000414678.8:c.3145G>T | ENSP00000412835.3:p.Ala1049Ser | |
| ENST00000637015.2:c.3364G>T | ENSP00000489729.2:p.Ala1122Ser | |
| ENST00000319584.11:c.1249G>T | ENSP00000313006.7:p.Ala417Ser | |
| ENST00000346085.10:c.3274G>T | ENSP00000344546.5:p.Ala1092Ser | |
| ENST00000350026.10:c.2986G>T | ENSP00000055163.7:p.Ala996Ser | |
| ENST00000414678.7:c.1393G>T | ENSP00000412835.2:p.Ala465Ser | |
| ENST00000635849.1:c.556G>T | ENSP00000490948.1:p.Ala186Ser | |
| ENST00000635957.1:c.190G>T | ENSP00000490385.1:p.Ala64Ser | |
| ENST00000636426.1:n.399G>T | ||
| ENST00000636930.2:c.3235G>T MANE Select | ENSP00000490491.2:p.Ala1079Ser | |
| ENST00000637015.1:c.603G>T | ||
| ENST00000637568.1:c.517G>T | ||
| ENST00000637722.1:n.1171G>T | ||
| ENST00000637810.1:c.736G>T | ENSP00000489636.1:p.Ala246Ser | |
| ENST00000637904.1:c.736G>T | ENSP00000490550.1:p.Ala246Ser | |
| ENST00000647938.1:c.3025G>T | ENSP00000498155.1:p.Ala1009Ser | |
| ENST00000319584.10:c.1252G>T | ENSP00000313006.6:p.Ala418Ser | |
| ENST00000346085.9:c.3025G>T | ENSP00000344546.4:p.Ala1009Ser | |
| ENST00000350026.9:c.2986G>T | ENSP00000055163.7:p.Ala996Ser | |
| ENST00000400790.3:c.187G>T | ENSP00000383596.3:p.Ala63Ser | |
| ENST00000414678.6:c.1393G>T | ENSP00000412835.2:p.Ala465Ser | |
| ENST00000478761.3:c.437G>T | ||
| NM_017519.2:c.2986G>T | NP_059989.2:p.Ala996Ser | |
| NM_020732.3:c.3025G>T | NP_065783.3:p.Ala1009Ser | |
| XM_005267069.3:c.2986G>T | XP_005267126.2:p.Ala996Ser | |
| XM_011535984.1:c.2065G>T | XP_011534286.1:p.Ala689Ser | |
| XM_011535985.1:c.1885G>T | XP_011534287.1:p.Ala629Ser | |
| XM_011535986.1:c.1645G>T | XP_011534288.1:p.Ala549Ser | |
| XM_011535987.1:c.1264G>T | XP_011534289.1:p.Ala422Ser | |
| XM_011535988.1:c.127G>T | XP_011534290.1:p.Ala43Ser | |
| NM_001346813.1:c.2986G>T | NP_001333742.1:p.Ala996Ser | |
| NM_001363725.1:c.736G>T | NP_001350654.1:p.Ala246Ser | |
| XM_011535984.2:c.3196G>T | XP_011534286.2:p.Ala1066Ser | |
| XM_011535988.3:c.127G>T | XP_011534290.1:p.Ala43Ser | |
| XM_017011103.2:c.3097G>T | XP_016866592.1:p.Ala1033Ser | |
| XM_017011104.1:c.3067G>T | XP_016866593.1:p.Ala1023Ser | |
| XM_017011105.2:c.3196G>T | XP_016866594.1:p.Ala1066Ser | |
| XM_017011106.2:c.3067G>T | XP_016866595.1:p.Ala1023Ser | |
| XM_017011107.2:c.2887G>T | XP_016866596.1:p.Ala963Ser | |
| XR_002956289.1:n.3279G>T | ||
| NM_001363725.2:c.736G>T | NP_001350654.1:p.Ala246Ser | |
| NM_001371656.1:c.3274G>T | NP_001358585.1:p.Ala1092Ser | |
| NM_001374820.1:c.3274G>T | NP_001361749.1:p.Ala1092Ser | |
| NM_001374828.1:c.3235G>T MANE Select | NP_001361757.1:p.Ala1079Ser | |
| NM_017519.3:c.3235G>T | NP_059989.3:p.Ala1079Ser |