Linked Data
ClinVar Variation Id:
2818478
ClinVar RCV Id:
RCV003713718
gnomAD v4:
8-86671092-T-C
MyVariant Identifiers:
chr8:g.87683320T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671092T>C , CM000670.2:g.86671092T>C | GRCh38 |
| NC_000008.10:g.87683320T>C , CM000670.1:g.87683320T>C | GRCh37 |
| NC_000008.9:g.87752436T>C | NCBI36 |
| NG_016980.1:g.77584A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.345A>G MANE Select | ENSP00000316605.5:p.Gln115= | |
| ENST00000680314.1:n.106A>G | ||
| ENST00000681746.1:c.345A>G | ENSP00000505959.1:p.Gln115= | |
| ENST00000320005.5:c.345A>G | ENSP00000316605.5:p.Gln115= | |
| NM_019098.4:c.345A>G | NP_061971.3:p.Gln115= | |
| XM_011517138.1:c.-70A>G | XP_011515440.1:n.-70A>G | |
| XM_011517138.2:c.-70A>G | XP_011515440.1:n.-70A>G | |
| NM_019098.5:c.345A>G MANE Select | NP_061971.3:p.Gln115= |