Linked Data
ClinVar Variation Id:
1378646
ClinVar RCV Id:
RCV001881260
dbSNP Id:
rs1019423413
gnomAD v2:
5-110097332-G-A
gnomAD v4:
5-110761632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761632G>A , CM000667.2:g.110761632G>A | GRCh38 |
| NC_000005.9:g.110097332G>A , CM000667.1:g.110097332G>A | GRCh37 |
| NC_000005.8:g.110125231G>A | NCBI36 |
| NG_051334.1:g.28497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.1107G>A MANE Select | ENSP00000348211.3:p.Met369Ile | |
| ENST00000355943.7:c.1107G>A | ENSP00000348211.3:p.Met369Ile | |
| ENST00000447245.6:c.864G>A | ENSP00000399717.2:p.Met288Ile | |
| ENST00000502462.6:n.1423G>A | ||
| ENST00000504098.1:c.669G>A | ENSP00000425708.1:p.Met223Ile | |
| ENST00000509432.1:c.468G>A | ENSP00000426604.1:p.Met156Ile | |
| ENST00000513706.2:n.2707G>A | ||
| ENST00000513807.5:c.621G>A | ENSP00000421134.1:p.Met207Ile | |
| NM_001303249.1:c.864G>A | NP_001290178.1:p.Met288Ile | |
| NM_001303250.1:c.834G>A | NP_001290179.1:p.Met278Ile | |
| NM_138773.2:c.1107G>A | NP_620128.1:p.Met369Ile | |
| NM_001303249.2:c.864G>A | NP_001290178.1:p.Met288Ile | |
| NM_001303250.2:c.834G>A | NP_001290179.1:p.Met278Ile | |
| NM_138773.3:c.1107G>A | NP_620128.1:p.Met369Ile | |
| NR_138151.1:n.1381G>A | ||
| NM_138773.4:c.1107G>A MANE Select | NP_620128.1:p.Met369Ile | |
| NM_001303249.3:c.864G>A | NP_001290178.1:p.Met288Ile | |
| NM_001303250.3:c.834G>A | NP_001290179.1:p.Met278Ile | |
| NR_138151.2:n.1346G>A |