Linked Data
ClinVar Variation Id:
3017706
ClinVar RCV Id:
RCV003874305
dbSNP Id:
rs1284932088
gnomAD v2:
5-172661944-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173234941A>G , CM000667.2:g.173234941A>G | GRCh38 |
| NC_000005.9:g.172661944A>G , CM000667.1:g.172661944A>G | GRCh37 |
| NC_000005.8:g.172594550A>G | NCBI36 |
| NG_013340.1:g.5372T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.143T>C MANE Select | ENSP00000327758.4:p.Leu48Pro | |
| ENST00000329198.4:c.143T>C | ENSP00000327758.4:p.Leu48Pro | |
| ENST00000424406.2:c.143T>C | ENSP00000395378.2:p.Leu48Pro | |
| ENST00000517440.1:c.143T>C | ENSP00000429905.1:p.Leu48Pro | |
| ENST00000521848.1:c.143T>C | ENSP00000427906.1:p.Leu48Pro | |
| NM_001166175.1:c.143T>C | NP_001159647.1:p.Leu48Pro | |
| NM_001166176.1:c.143T>C | NP_001159648.1:p.Leu48Pro | |
| NM_004387.3:c.143T>C | NP_004378.1:p.Leu48Pro | |
| XM_017009071.2:c.143T>C | XP_016864560.1:p.Leu48Pro | |
| NM_004387.4:c.143T>C MANE Select | NP_004378.1:p.Leu48Pro | |
| NM_001166175.2:c.143T>C | NP_001159647.1:p.Leu48Pro | |
| NM_001166176.2:c.143T>C | NP_001159648.1:p.Leu48Pro |