Linked Data
ClinVar Variation Id:
462853
dbSNP Id:
rs760562478
ExAC:
9:6592172 A / G
gnomAD v2:
9-6592172-A-G
gnomAD v3:
9-6592172-A-G
gnomAD v4:
9-6592172-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592172A>G , CM000671.2:g.6592172A>G | GRCh38 |
| NC_000009.11:g.6592172A>G , CM000671.1:g.6592172A>G | GRCh37 |
| NC_000009.10:g.6582172A>G | NCBI36 |
| NG_016397.1:g.58521T>C , LRG_643:g.58521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1453T>C MANE Select | ENSP00000370737.4:p.Leu485= | |
| ENST00000639364.1:n.1153T>C | ||
| ENST00000639443.1:n.1021T>C | ||
| ENST00000639954.1:n.1161T>C | ||
| ENST00000640592.1:n.1336T>C | ||
| ENST00000640703.1:n.296T>C | ||
| ENST00000321612.6:c.1453T>C | ENSP00000370737.3:p.Leu485= | |
| ENST00000463305.1:n.537T>C | ||
| NM_000170.2:c.1453T>C , LRG_643t1:c.1453T>C | NP_000161.2:p.Leu485= | |
| NM_000170.3:c.1453T>C MANE Select | NP_000161.2:p.Leu485= |