Linked Data
ClinVar Variation Id:
284008
ClinVar RCV Id:
RCV000321105
dbSNP Id:
rs886042767
gnomAD v4:
1-215675468-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675468A>G , CM000663.2:g.215675468A>G | GRCh38 |
| NC_000001.10:g.215848810A>G , CM000663.1:g.215848810A>G | GRCh37 |
| NC_000001.9:g.213915433A>G | NCBI36 |
| NG_009497.1:g.752929T>C | |
| NG_009497.2:g.752981T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12443T>C MANE Select | ENSP00000305941.3:p.Leu4148Pro | |
| ENST00000674083.1:c.12443T>C | ENSP00000501296.1:p.Leu4148Pro | |
| ENST00000307340.7:c.12443T>C | ENSP00000305941.3:p.Leu4148Pro | |
| NM_206933.2:c.12443T>C | NP_996816.2:p.Leu4148Pro | |
| NM_206933.3:c.12443T>C | NP_996816.2:p.Leu4148Pro | |
| NM_206933.4:c.12443T>C MANE Select | NP_996816.3:p.Leu4148Pro |