Linked Data
ClinVar Variation Id:
857770
ClinVar RCV Id:
RCV001063512
dbSNP Id:
rs1660190269
gnomAD v4:
1-94031113-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031113A>G , CM000663.2:g.94031113A>G | GRCh38 |
| NC_000001.10:g.94496669A>G , CM000663.1:g.94496669A>G | GRCh37 |
| NC_000001.9:g.94269257A>G | NCBI36 |
| NG_009073.1:g.95037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4136T>C MANE Select | ENSP00000359245.3:p.Leu1379Pro | |
| ENST00000370225.3:c.4136T>C | ENSP00000359245.3:p.Leu1379Pro | |
| ENST00000536513.5:c.512T>C | ENSP00000439707.2:p.Leu171Pro | |
| NM_000350.2:c.4136T>C | NP_000341.2:p.Leu1379Pro | |
| NM_000350.3:c.4136T>C MANE Select | NP_000341.2:p.Leu1379Pro |