Linked Data
ClinVar Variation Id:
3040921
ClinVar RCV Id:
RCV004551022
dbSNP Id:
rs147661331
ExAC:
17:27857637 C / G
gnomAD v2:
17-27857637-C-G
gnomAD v3:
17-29530619-C-G
gnomAD v4:
17-29530619-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29530619C>G , CM000679.2:g.29530619C>G | GRCh38 |
| NC_000017.10:g.27857637C>G , CM000679.1:g.27857637C>G | GRCh37 |
| NC_000017.9:g.24881763C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2361C>G MANE Select | ENSP00000261716.3:p.Ala787= | |
| ENST00000261716.7:c.2361C>G | ENSP00000261716.3:p.Ala787= | |
| ENST00000536202.1:c.1917C>G | ENSP00000438819.1:p.Ala639= | |
| ENST00000578653.1:n.445C>G | ||
| NM_020791.2:c.2361C>G | NP_065842.1:p.Ala787= | |
| NM_025142.1:c.1917C>G | NP_079418.1:p.Ala639= | |
| XM_011525060.1:c.2361C>G | XP_011523362.1:p.Ala787= | |
| XM_011525060.2:c.2361C>G | XP_011523362.1:p.Ala787= | |
| NM_020791.4:c.2361C>G MANE Select | NP_065842.1:p.Ala787= |