Linked Data
ClinVar Variation Id:
2057986
ClinVar RCV Id:
RCV002928352
dbSNP Id:
rs1663842091
gnomAD v3:
1-147758589-A-G
gnomAD v4:
1-147758589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758589A>G , CM000663.2:g.147758589A>G | GRCh38 |
| NC_000001.10:g.147230697A>G , CM000663.1:g.147230697A>G | GRCh37 |
| NC_000001.9:g.145697321A>G | NCBI36 |
| NG_009369.2:g.19786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.650T>C MANE Select | ENSP00000463851.1:p.Leu217Pro | |
| ENST00000430508.1:c.650T>C | ENSP00000407645.1:p.Leu217Pro | |
| ENST00000579774.2:c.650T>C | ENSP00000463851.1:p.Leu217Pro | |
| ENST00000621517.1:c.650T>C | ENSP00000484552.1:p.Leu217Pro | |
| NM_005266.6:c.650T>C | NP_005257.2:p.Leu217Pro | |
| NM_181703.3:c.650T>C | NP_859054.1:p.Leu217Pro | |
| XM_005272951.3:c.650T>C | XP_005273008.1:p.Leu217Pro | |
| XM_011509415.1:c.650T>C | XP_011507717.1:p.Leu217Pro | |
| XR_922078.1:n.434-18972A>G | ||
| XR_922079.1:n.434-18972A>G | ||
| XM_005272951.4:c.650T>C | XP_005273008.1:p.Leu217Pro | |
| XM_017001044.1:c.650T>C | XP_016856533.1:p.Leu217Pro | |
| XR_922079.3:n.744-18972A>G | ||
| NM_181703.4:c.650T>C MANE Select | NP_859054.1:p.Leu217Pro | |
| NM_005266.7:c.650T>C | NP_005257.2:p.Leu217Pro |