Linked Data
ClinVar Variation Id:
866824
ClinVar RCV Id:
RCV001075138
dbSNP Id:
rs1822989898
gnomAD v4:
8-86632875-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632875A>C , CM000670.2:g.86632875A>C | GRCh38 |
| NC_000008.10:g.87645103A>C , CM000670.1:g.87645103A>C | GRCh37 |
| NC_000008.9:g.87714219A>C | NCBI36 |
| NG_016980.1:g.115801T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1197T>G MANE Select | ENSP00000316605.5:p.Tyr399Ter | |
| ENST00000681546.1:n.1017T>G | ||
| ENST00000681746.1:c.1197T>G | ENSP00000505959.1:p.Tyr399Ter | |
| ENST00000320005.5:c.1197T>G | ENSP00000316605.5:p.Tyr399Ter | |
| NM_019098.4:c.1197T>G | NP_061971.3:p.Tyr399Ter | |
| XM_011517138.1:c.783T>G | XP_011515440.1:p.Tyr261Ter | |
| XM_011517138.2:c.783T>G | XP_011515440.1:p.Tyr261Ter | |
| NM_019098.5:c.1197T>G MANE Select | NP_061971.3:p.Tyr399Ter |