Linked Data
ClinVar Variation Id:
1910485
ClinVar RCV Id:
RCV002587759
dbSNP Id:
rs2131529349
gnomAD v4:
8-86575959-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575959T>G , CM000670.2:g.86575959T>G | GRCh38 |
| NC_000008.10:g.87588187T>G , CM000670.1:g.87588187T>G | GRCh37 |
| NC_000008.9:g.87657303T>G | NCBI36 |
| NG_016980.1:g.172717A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2275A>C MANE Select | ENSP00000316605.5:p.Ser759Arg | |
| ENST00000681546.1:n.2095A>C | ||
| ENST00000681746.1:c.*686A>C | ENSP00000505959.1:n.*686A>C | |
| ENST00000320005.5:c.2275A>C | ENSP00000316605.5:p.Ser759Arg | |
| ENST00000517327.5:c.276+2730A>C | ENSP00000428329.1:n.276+2730A>C | |
| NM_019098.4:c.2275A>C | NP_061971.3:p.Ser759Arg | |
| XM_011517138.1:c.1861A>C | XP_011515440.1:p.Ser621Arg | |
| XM_011517138.2:c.1861A>C | XP_011515440.1:p.Ser621Arg | |
| NM_019098.5:c.2275A>C MANE Select | NP_061971.3:p.Ser759Arg |