Linked Data
ClinVar Variation Id:
197840
ClinVar RCV Id:
RCV000178974
dbSNP Id:
rs147480410
ExAC:
8:87680351 G / A
gnomAD v2:
8-87680351-G-A
gnomAD v3:
8-86668123-G-A
gnomAD v4:
8-86668123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668123G>A , CM000670.2:g.86668123G>A | GRCh38 |
| NC_000008.10:g.87680351G>A , CM000670.1:g.87680351G>A | GRCh37 |
| NC_000008.9:g.87749467G>A | NCBI36 |
| NG_016980.1:g.80553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.539C>T MANE Select | ENSP00000316605.5:p.Pro180Leu | |
| ENST00000681746.1:c.539C>T | ENSP00000505959.1:p.Pro180Leu | |
| ENST00000320005.5:c.539C>T | ENSP00000316605.5:p.Pro180Leu | |
| NM_019098.4:c.539C>T | NP_061971.3:p.Pro180Leu | |
| XM_011517138.1:c.125C>T | XP_011515440.1:p.Pro42Leu | |
| XM_011517138.2:c.125C>T | XP_011515440.1:p.Pro42Leu | |
| NM_019098.5:c.539C>T MANE Select | NP_061971.3:p.Pro180Leu |