Linked Data
ClinVar Variation Id:
1537368
ClinVar RCV Id:
RCV002157198
dbSNP Id:
rs2131618854
gnomAD v4:
8-86670951-T-C
MyVariant Identifiers:
chr8:g.87683179T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670951T>C , CM000670.2:g.86670951T>C | GRCh38 |
| NC_000008.10:g.87683179T>C , CM000670.1:g.87683179T>C | GRCh37 |
| NC_000008.9:g.87752295T>C | NCBI36 |
| NG_016980.1:g.77725A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.486A>G MANE Select | ENSP00000316605.5:p.Pro162= | |
| ENST00000680314.1:n.247A>G | ||
| ENST00000681746.1:c.486A>G | ENSP00000505959.1:p.Pro162= | |
| ENST00000320005.5:c.486A>G | ENSP00000316605.5:p.Pro162= | |
| NM_019098.4:c.486A>G | NP_061971.3:p.Pro162= | |
| XM_011517138.1:c.72A>G | XP_011515440.1:p.Pro24= | |
| XM_011517138.2:c.72A>G | XP_011515440.1:p.Pro24= | |
| NM_019098.5:c.486A>G MANE Select | NP_061971.3:p.Pro162= |