Linked Data
ClinVar Variation Id:
5355
ClinVar RCV Id:
RCV000005686
dbSNP Id:
rs121908418
ExAC:
11:134128483 T / C
gnomAD v2:
11-134128483-T-C
gnomAD v3:
11-134258589-T-C
gnomAD v4:
11-134258589-T-C
PubMed:
PMID:17304052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134258589T>C , CM000673.2:g.134258589T>C | GRCh38 |
| NC_000011.9:g.134128483T>C , CM000673.1:g.134128483T>C | GRCh37 |
| NC_000011.8:g.133633693T>C | NCBI36 |
| NG_015842.1:g.10050T>C , LRG_448:g.10050T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281182.9:c.455T>C MANE Select | ENSP00000281182.5:p.Met152Thr | |
| ENST00000281182.8:c.455T>C | ENSP00000281182.4:p.Met152Thr | |
| ENST00000374752.6:c.110-419T>C | ENSP00000363884.4:n.110-419T>C | |
| ENST00000524426.5:c.*54T>C | ENSP00000431310.1:n.*54T>C | |
| ENST00000524547.5:n.94-419T>C | ||
| ENST00000526026.5:c.*144T>C | ENSP00000431532.1:n.*144T>C | |
| ENST00000527082.5:n.309T>C | ||
| ENST00000527665.5:n.843T>C | ||
| ENST00000528325.5:n.284T>C | ||
| ENST00000530533.5:n.318T>C | ||
| ENST00000531338.5:n.311T>C | ||
| ENST00000533387.5:n.216T>C | ||
| ENST00000534240.5:n.216T>C | ||
| ENST00000534433.5:n.423-419T>C | ||
| NM_014384.2:c.455T>C , LRG_448t1:c.455T>C | NP_055199.1:p.Met152Thr | |
| XM_005271501.2:c.455T>C | XP_005271558.1:p.Met152Thr | |
| XM_005271505.2:c.455T>C | XP_005271562.1:p.Met152Thr | |
| XM_011542750.1:c.455T>C | XP_011541052.1:p.Met152Thr | |
| XR_947819.1:n.519T>C | ||
| XR_947820.1:n.519T>C | ||
| XR_947821.1:n.519T>C | ||
| XR_947822.1:n.349T>C | ||
| XR_947823.1:n.505T>C | ||
| XM_005271505.4:c.455T>C | XP_005271562.1:p.Met152Thr | |
| XM_011542750.3:c.455T>C | XP_011541052.1:p.Met152Thr | |
| XM_017017542.2:c.455T>C | XP_016873031.1:p.Met152Thr | |
| XM_017017543.2:c.455T>C | XP_016873032.1:p.Met152Thr | |
| XM_017017544.2:c.455T>C | XP_016873033.1:p.Met152Thr | |
| XM_017017545.2:c.455T>C | XP_016873034.1:p.Met152Thr | |
| XM_017017546.2:c.161T>C | XP_016873035.1:p.Met54Thr | |
| XM_017017547.2:c.161T>C | XP_016873036.1:p.Met54Thr | |
| XM_017017548.2:c.455T>C | XP_016873037.1:p.Met152Thr | |
| XM_017017549.2:c.455T>C | XP_016873038.1:p.Met152Thr | |
| XM_024448437.1:c.455T>C | XP_024304205.1:p.Met152Thr | |
| XM_024448438.1:c.74T>C | XP_024304206.1:p.Met25Thr | |
| NM_014384.3:c.455T>C MANE Select | NP_055199.1:p.Met152Thr |