Linked Data
ClinVar Variation Id:
1955217
ClinVar RCV Id:
RCV002715228
dbSNP Id:
rs1335930082
gnomAD v2:
9-3856023-C-A
gnomAD v3:
9-3856023-C-A
gnomAD v4:
9-3856023-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.3856023C>A , CM000671.2:g.3856023C>A | GRCh38 |
| NC_000009.11:g.3856023C>A , CM000671.1:g.3856023C>A | GRCh37 |
| NC_000009.10:g.3846023C>A | NCBI36 |
| NG_011782.1:g.449013G>T | |
| NG_011782.2:g.449013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464391.2:n.1017G>T | ||
| ENST00000491889.6:c.*1822G>T | ENSP00000419914.1:n.*1822G>T | |
| ENST00000645252.2:n.901G>T | ||
| ENST00000682749.1:c.1994G>T | ENSP00000507306.1:p.Gly665Val | |
| ENST00000682846.1:c.132-26531G>T | ENSP00000507527.1:n.132-26531G>T | |
| ENST00000682864.1:n.958G>T | ||
| ENST00000381971.8:c.2459G>T MANE Select | ENSP00000371398.3:p.Gly820Val | |
| ENST00000645252.1:n.901G>T | ||
| ENST00000324333.14:c.1994G>T | ENSP00000325494.10:p.Gly665Val | |
| ENST00000381971.7:c.2459G>T | ENSP00000371398.3:p.Gly820Val | |
| ENST00000461870.5:n.815G>T | ||
| ENST00000467497.6:n.999G>T | ||
| NM_001042413.1:c.2459G>T | NP_001035878.1:p.Gly820Val | |
| NM_152629.3:c.1994G>T | NP_689842.3:p.Gly665Val | |
| XM_005251386.3:c.1994G>T | XP_005251443.1:p.Gly665Val | |
| XM_005251387.3:c.1793G>T | XP_005251444.1:p.Gly598Val | |
| XM_005251388.3:c.1793G>T | XP_005251445.1:p.Gly598Val | |
| XM_011517763.1:c.2459G>T | XP_011516065.1:p.Gly820Val | |
| XM_011517764.1:c.2459G>T | XP_011516066.1:p.Gly820Val | |
| XM_011517765.1:c.2459G>T | XP_011516067.1:p.Gly820Val | |
| XM_011517766.1:c.1994G>T | XP_011516068.1:p.Gly665Val | |
| XM_011517767.1:c.1793G>T | XP_011516069.1:p.Gly598Val | |
| XM_005251386.4:c.1994G>T | XP_005251443.1:p.Gly665Val | |
| XM_005251387.4:c.1793G>T | XP_005251444.1:p.Gly598Val | |
| XM_005251388.4:c.1793G>T | XP_005251445.1:p.Gly598Val | |
| XM_011517763.2:c.2459G>T | XP_011516065.1:p.Gly820Val | |
| XM_011517764.2:c.2459G>T | XP_011516066.1:p.Gly820Val | |
| XM_011517765.2:c.2459G>T | XP_011516067.1:p.Gly820Val | |
| XM_011517766.2:c.1994G>T | XP_011516068.1:p.Gly665Val | |
| XM_011517767.3:c.1793G>T | XP_011516069.1:p.Gly598Val | |
| XM_017014361.1:c.1994G>T | XP_016869850.1:p.Gly665Val | |
| NM_001042413.2:c.2459G>T MANE Select | NP_001035878.1:p.Gly820Val | |
| NM_152629.4:c.1994G>T | NP_689842.3:p.Gly665Val |