Linked Data
ClinVar Variation Id:
954177
ClinVar RCV Id:
RCV001226589
dbSNP Id:
rs770722154
ExAC:
9:101983881 A / G
gnomAD v2:
9-101983881-A-G
gnomAD v3:
9-99221599-A-G
gnomAD v4:
9-99221599-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221599A>G , CM000671.2:g.99221599A>G | GRCh38 |
| NC_000009.11:g.101983881A>G , CM000671.1:g.101983881A>G | GRCh37 |
| NC_000009.10:g.101023702A>G | NCBI36 |
| NG_008928.1:g.5366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.296T>C MANE Select | ENSP00000417764.1:p.Leu99Pro | |
| ENST00000238477.5:c.296T>C | ENSP00000432675.2:p.Leu99Pro | |
| ENST00000476832.1:c.296T>C | ENSP00000417764.1:p.Leu99Pro | |
| NM_033087.3:c.296T>C | NP_149078.1:p.Leu99Pro | |
| NR_024532.1:n.366T>C | ||
| NM_033087.4:c.296T>C MANE Select | NP_149078.1:p.Leu99Pro | |
| NR_024532.2:n.344T>C |