Linked Data
ClinVar Variation Id:
16124
ClinVar RCV Id:
RCV000017504
dbSNP Id:
rs121909733
gnomAD v4:
10-87053404-C-T
PubMed:
PMID:9571255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87053404C>T , CM000672.2:g.87053404C>T | GRCh38 |
| NC_000010.10:g.88813161C>T , CM000672.1:g.88813161C>T | GRCh37 |
| NC_000010.9:g.88803141C>T | NCBI36 |
| NG_013010.1:g.46616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474574.2:n.3070G>A | ||
| ENST00000487058.2:n.1242G>A | ||
| ENST00000681987.1:n.1333G>A | ||
| ENST00000681988.1:c.994G>A | ENSP00000507316.1:p.Gly332Ser | |
| ENST00000682396.1:c.1486G>A | ENSP00000506764.1:n.1486G>A | |
| ENST00000682507.1:c.994G>A | ENSP00000508098.1:p.Gly332Ser | |
| ENST00000682622.1:c.1775G>A | ENSP00000506732.1:n.1775G>A | |
| ENST00000682833.1:c.1330G>A | ||
| ENST00000683022.1:c.1516G>A | ||
| ENST00000683256.1:c.994G>A | ENSP00000507901.1:p.Gly332Ser | |
| ENST00000683269.1:c.994G>A | ENSP00000508107.1:p.Gly332Ser | |
| ENST00000683647.1:n.4829G>A | ||
| ENST00000683649.1:n.345G>A | ||
| ENST00000683783.1:c.994G>A | ENSP00000507881.1:p.Gly332Ser | |
| ENST00000683813.1:n.1223G>A | ||
| ENST00000684032.1:c.1350G>A | ENSP00000506969.1:n.1350G>A | |
| ENST00000684201.1:c.1219G>A | ENSP00000507887.1:p.Gly407Ser | |
| ENST00000684338.1:c.1495G>A | ENSP00000507457.1:p.Gly499Ser | |
| ENST00000684372.1:c.994G>A | ENSP00000508244.1:p.Gly332Ser | |
| ENST00000684434.1:c.966G>A | ||
| ENST00000684546.1:c.994G>A | ENSP00000507729.1:p.Gly332Ser | |
| ENST00000684665.1:n.459G>A | ||
| ENST00000684690.1:n.1722G>A | ||
| ENST00000684699.1:n.4074G>A | ||
| ENST00000277865.5:c.1495G>A MANE Select | ENSP00000277865.4:p.Gly499Ser | |
| ENST00000277865.4:c.1495G>A | ENSP00000277865.4:p.Gly499Ser | |
| NM_005271.3:c.1495G>A | NP_005262.1:p.Gly499Ser | |
| XM_011539668.1:c.994G>A | XP_011537970.1:p.Gly332Ser | |
| XM_011539669.1:c.994G>A | XP_011537971.1:p.Gly332Ser | |
| NM_001318900.1:c.1096G>A | NP_001305829.1:p.Gly366Ser | |
| NM_001318901.1:c.994G>A | NP_001305830.1:p.Gly332Ser | |
| NM_001318902.1:c.994G>A | NP_001305831.1:p.Gly332Ser | |
| NM_001318904.1:c.994G>A | NP_001305833.1:p.Gly332Ser | |
| NM_001318905.1:c.994G>A | NP_001305834.1:p.Gly332Ser | |
| NM_001318906.1:c.994G>A | NP_001305835.1:p.Gly332Ser | |
| NM_005271.4:c.1495G>A | NP_005262.1:p.Gly499Ser | |
| NM_005271.5:c.1495G>A MANE Select | NP_005262.1:p.Gly499Ser | |
| NM_001318904.2:c.994G>A | NP_001305833.1:p.Gly332Ser | |
| NM_001318905.2:c.994G>A | NP_001305834.1:p.Gly332Ser | |
| NM_001318906.2:c.994G>A | NP_001305835.1:p.Gly332Ser |