Linked Data
ClinVar Variation Id:
372262
ClinVar RCV Id:
RCV000412513
dbSNP Id:
rs1057519087
gnomAD v3:
1-39967632-C-T
gnomAD v4:
1-39967632-C-T
PubMed:
PMID:26005865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39967632C>T , CM000663.2:g.39967632C>T | GRCh38 |
| NC_000001.10:g.40433304C>T , CM000663.1:g.40433304C>T | GRCh37 |
| NC_000001.9:g.40205891C>T | NCBI36 |
| NG_053084.1:g.17521C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372811.10:c.1016C>T MANE Select | ENSP00000361898.6:p.Ser339Leu | |
| ENST00000372809.5:c.1055C>T | ENSP00000361895.5:p.Ser352Leu | |
| ENST00000372811.9:c.1016C>T | ENSP00000361898.5:p.Ser339Leu | |
| ENST00000420632.6:c.548C>T | ENSP00000391261.2:p.Ser183Leu | |
| ENST00000459917.1:n.150C>T | ||
| ENST00000480630.5:n.1457C>T | ||
| ENST00000481612.1:n.14C>T | ||
| ENST00000483824.5:n.1146+463C>T | ||
| ENST00000491515.5:n.241C>T | ||
| NM_001136493.2:c.1055C>T | NP_001129965.1:p.Ser352Leu | |
| NM_001287808.1:c.548C>T | NP_001274737.1:p.Ser183Leu | |
| NM_001287809.1:c.899C>T | NP_001274738.1:p.Ser300Leu | |
| NM_032793.4:c.1016C>T | NP_116182.2:p.Ser339Leu | |
| NR_109896.1:n.1192+463C>T | ||
| XM_005271285.1:c.1010C>T | XP_005271342.1:p.Ser337Leu | |
| XM_011542312.1:c.1012-172C>T | XP_011540614.1:n.1012-172C>T | |
| XR_946783.1:n.958C>T | ||
| NM_001349821.1:c.1010C>T | NP_001336750.1:p.Ser337Leu | |
| NM_001349822.1:c.1012-172C>T | NP_001336751.1:n.1012-172C>T | |
| NM_001349823.1:c.671C>T | NP_001336752.1:p.Ser224Leu | |
| NM_001136493.3:c.1055C>T | NP_001129965.1:p.Ser352Leu | |
| NM_001287809.2:c.899C>T | NP_001274738.1:p.Ser300Leu | |
| NM_001349821.2:c.1010C>T | NP_001336750.1:p.Ser337Leu | |
| NM_001349822.2:c.1012-172C>T | NP_001336751.1:n.1012-172C>T | |
| NM_001349823.2:c.671C>T | NP_001336752.1:p.Ser224Leu | |
| NM_032793.5:c.1016C>T MANE Select | NP_116182.2:p.Ser339Leu | |
| NR_109896.2:n.1159+463C>T | ||
| NM_001287808.2:c.548C>T | NP_001274737.1:p.Ser183Leu |