Linked Data
ClinVar Variation Id:
2038447
ClinVar RCV Id:
RCV002894962
dbSNP Id:
rs887351816
gnomAD v4:
19-49861461-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861461A>G , CM000681.2:g.49861461A>G | GRCh38 |
| NC_000019.9:g.50364718A>G , CM000681.1:g.50364718A>G | GRCh37 |
| NC_000019.8:g.55056530A>G | NCBI36 |
| NG_027717.1:g.11105T>C | |
| NG_050666.1:g.17618A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1436T>C MANE Select | ENSP00000323511.2:p.Met479Thr | |
| ENST00000636840.1:c.59+147T>C | ||
| ENST00000640501.1:c.42T>C | ||
| ENST00000322344.7:c.1436T>C | ENSP00000323511.2:p.Met479Thr | |
| ENST00000593946.5:c.*1363T>C | ENSP00000468896.1:n.*1363T>C | |
| ENST00000594661.5:n.1937T>C | ||
| ENST00000595081.5:n.339T>C | ||
| ENST00000596014.5:c.1436T>C | ENSP00000472300.1:p.Met479Thr | |
| ENST00000597965.2:c.143T>C | ENSP00000471097.2:p.Met48Thr | |
| ENST00000599454.5:n.356T>C | ||
| ENST00000600573.5:c.1343T>C | ENSP00000469826.1:p.Met448Thr | |
| ENST00000600910.5:c.1326T>C | ENSP00000473137.1:p.His442= | |
| ENST00000601816.3:n.508T>C | ||
| ENST00000625216.2:c.517T>C | ENSP00000486898.1:n.517T>C | |
| ENST00000627232.2:c.1356T>C | ENSP00000486037.1:n.1356T>C | |
| ENST00000631020.2:c.1328T>C | ENSP00000486707.1:p.Met443Thr | |
| NM_007254.3:c.1436T>C | NP_009185.2:p.Met479Thr | |
| NM_007254.4:c.1436T>C MANE Select | NP_009185.2:p.Met479Thr |