Linked Data
ClinVar Variation Id:
363870
dbSNP Id:
rs771889150
ExAC:
8:87616388 G / C
gnomAD v2:
8-87616388-G-C
gnomAD v4:
8-86604160-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86604160G>C , CM000670.2:g.86604160G>C | GRCh38 |
| NC_000008.10:g.87616388G>C , CM000670.1:g.87616388G>C | GRCh37 |
| NC_000008.9:g.87685504G>C | NCBI36 |
| NG_016980.1:g.144516C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1714C>G MANE Select | ENSP00000316605.5:p.Leu572Val | |
| ENST00000681546.1:n.1534C>G | ||
| ENST00000681746.1:c.*125C>G | ENSP00000505959.1:n.*125C>G | |
| ENST00000320005.5:c.1714C>G | ENSP00000316605.5:p.Leu572Val | |
| NM_019098.4:c.1714C>G | NP_061971.3:p.Leu572Val | |
| XM_011517138.1:c.1300C>G | XP_011515440.1:p.Leu434Val | |
| XM_011517138.2:c.1300C>G | XP_011515440.1:p.Leu434Val | |
| NM_019098.5:c.1714C>G MANE Select | NP_061971.3:p.Leu572Val |