Linked Data
ClinVar Variation Id:
2350
ClinVar RCV Id:
RCV000002441
dbSNP Id:
rs121912605
ExAC:
10:96030304 C / T
gnomAD v2:
10-96030304-C-T
gnomAD v4:
10-94270547-C-T
PubMed:
PMID:17086182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94270547C>T , CM000672.2:g.94270547C>T | GRCh38 |
| NC_000010.10:g.96030304C>T , CM000672.1:g.96030304C>T | GRCh37 |
| NC_000010.9:g.96020294C>T | NCBI36 |
| NG_015799.1:g.281559C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.3527C>T | ENSP00000360426.1:p.Ser1176Leu | |
| ENST00000685253.1:c.*994C>T | ENSP00000509405.1:n.*994C>T | |
| ENST00000685889.1:n.1186C>T | ||
| ENST00000686954.1:c.4451C>T | ENSP00000508416.1:p.Ser1484Leu | |
| ENST00000688810.1:c.3479C>T | ENSP00000509140.1:p.Ser1160Leu | |
| ENST00000689233.1:n.4781C>T | ||
| ENST00000692286.1:c.4451C>T | ENSP00000509490.1:p.Ser1484Leu | |
| ENST00000692396.1:c.4403C>T | ENSP00000508605.1:p.Ser1468Leu | |
| ENST00000371380.8:c.4451C>T MANE Select | ENSP00000360431.2:p.Ser1484Leu | |
| ENST00000371385.8:c.3425C>T | ENSP00000360438.4:p.Ser1142Leu | |
| ENST00000674738.1:c.2856C>T | ||
| ENST00000674827.1:c.2528C>T | ENSP00000502523.1:p.Ser843Leu | |
| ENST00000675218.1:c.3527C>T | ENSP00000501910.1:p.Ser1176Leu | |
| ENST00000675487.1:c.*384C>T | ENSP00000502340.1:n.*384C>T | |
| ENST00000675718.1:c.3678C>T | ||
| ENST00000676102.1:c.3296C>T | ENSP00000502811.1:p.Ser1099Leu | |
| ENST00000260766.7:c.4451C>T | ENSP00000260766.3:p.Ser1484Leu | |
| ENST00000371375.1:c.3527C>T | ENSP00000360426.1:p.Ser1176Leu | |
| ENST00000371380.7:c.4451C>T | ENSP00000360431.2:p.Ser1484Leu | |
| ENST00000371385.7:c.3527C>T | ENSP00000360438.3:p.Ser1176Leu | |
| NM_001165979.2:c.3527C>T | NP_001159451.1:p.Ser1176Leu | |
| NM_001288989.1:c.4403C>T | NP_001275918.1:p.Ser1468Leu | |
| NM_016341.3:c.4451C>T | NP_057425.3:p.Ser1484Leu | |
| XM_006717885.2:c.4451C>T | XP_006717948.1:p.Ser1484Leu | |
| XM_006717886.2:c.4451C>T | XP_006717949.1:p.Ser1484Leu | |
| XM_006717888.2:c.4451C>T | XP_006717951.1:p.Ser1484Leu | |
| XM_006717889.2:c.4403C>T | XP_006717952.1:p.Ser1468Leu | |
| XM_006717890.1:c.3527C>T | XP_006717953.1:p.Ser1176Leu | |
| XM_011539849.1:c.4451C>T | XP_011538151.1:p.Ser1484Leu | |
| XM_011539850.1:c.3296C>T | XP_011538152.1:p.Ser1099Leu | |
| XM_011539851.1:c.4451C>T | XP_011538153.1:p.Ser1484Leu | |
| XM_011539852.1:c.4451C>T | XP_011538154.1:p.Ser1484Leu | |
| XM_006717885.4:c.4451C>T | XP_006717948.1:p.Ser1484Leu | |
| XM_006717888.4:c.4451C>T | XP_006717951.1:p.Ser1484Leu | |
| XM_006717889.4:c.4403C>T | XP_006717952.1:p.Ser1468Leu | |
| XM_006717890.3:c.3527C>T | XP_006717953.1:p.Ser1176Leu | |
| XM_011539849.3:c.4451C>T | XP_011538151.1:p.Ser1484Leu | |
| XM_011539850.3:c.3296C>T | XP_011538152.1:p.Ser1099Leu | |
| XM_011539851.3:c.4451C>T | XP_011538153.1:p.Ser1484Leu | |
| XM_011539852.3:c.4451C>T | XP_011538154.1:p.Ser1484Leu | |
| XM_017016310.2:c.4451C>T | XP_016871799.1:p.Ser1484Leu | |
| XM_017016311.2:c.4451C>T | XP_016871800.1:p.Ser1484Leu | |
| XM_017016312.2:c.3479C>T | XP_016871801.1:p.Ser1160Leu | |
| NM_001288989.2:c.4403C>T | NP_001275918.1:p.Ser1468Leu | |
| NM_016341.4:c.4451C>T MANE Select | NP_057425.3:p.Ser1484Leu |