Linked Data
ClinVar Variation Id:
2956439
ClinVar RCV Id:
RCV003814175
dbSNP Id:
rs774232431
ExAC:
9:3856117 G / A
gnomAD v2:
9-3856117-G-A
gnomAD v3:
9-3856117-G-A
gnomAD v4:
9-3856117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.3856117G>A , CM000671.2:g.3856117G>A | GRCh38 |
| NC_000009.11:g.3856117G>A , CM000671.1:g.3856117G>A | GRCh37 |
| NC_000009.10:g.3846117G>A | NCBI36 |
| NG_011782.1:g.448919C>T | |
| NG_011782.2:g.448919C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464391.2:n.923C>T | ||
| ENST00000491889.6:c.*1728C>T | ENSP00000419914.1:n.*1728C>T | |
| ENST00000645252.2:n.807C>T | ||
| ENST00000682749.1:c.1900C>T | ENSP00000507306.1:p.Leu634= | |
| ENST00000682846.1:c.132-26625C>T | ENSP00000507527.1:n.132-26625C>T | |
| ENST00000682864.1:n.864C>T | ||
| ENST00000381971.8:c.2365C>T MANE Select | ENSP00000371398.3:p.Leu789= | |
| ENST00000645252.1:n.807C>T | ||
| ENST00000324333.14:c.1900C>T | ENSP00000325494.10:p.Leu634= | |
| ENST00000381971.7:c.2365C>T | ENSP00000371398.3:p.Leu789= | |
| ENST00000461870.5:n.721C>T | ||
| ENST00000467497.6:n.905C>T | ||
| NM_001042413.1:c.2365C>T | NP_001035878.1:p.Leu789= | |
| NM_152629.3:c.1900C>T | NP_689842.3:p.Leu634= | |
| XM_005251386.3:c.1900C>T | XP_005251443.1:p.Leu634= | |
| XM_005251387.3:c.1699C>T | XP_005251444.1:p.Leu567= | |
| XM_005251388.3:c.1699C>T | XP_005251445.1:p.Leu567= | |
| XM_011517763.1:c.2365C>T | XP_011516065.1:p.Leu789= | |
| XM_011517764.1:c.2365C>T | XP_011516066.1:p.Leu789= | |
| XM_011517765.1:c.2365C>T | XP_011516067.1:p.Leu789= | |
| XM_011517766.1:c.1900C>T | XP_011516068.1:p.Leu634= | |
| XM_011517767.1:c.1699C>T | XP_011516069.1:p.Leu567= | |
| XM_005251386.4:c.1900C>T | XP_005251443.1:p.Leu634= | |
| XM_005251387.4:c.1699C>T | XP_005251444.1:p.Leu567= | |
| XM_005251388.4:c.1699C>T | XP_005251445.1:p.Leu567= | |
| XM_011517763.2:c.2365C>T | XP_011516065.1:p.Leu789= | |
| XM_011517764.2:c.2365C>T | XP_011516066.1:p.Leu789= | |
| XM_011517765.2:c.2365C>T | XP_011516067.1:p.Leu789= | |
| XM_011517766.2:c.1900C>T | XP_011516068.1:p.Leu634= | |
| XM_011517767.3:c.1699C>T | XP_011516069.1:p.Leu567= | |
| XM_017014361.1:c.1900C>T | XP_016869850.1:p.Leu634= | |
| NM_001042413.2:c.2365C>T MANE Select | NP_001035878.1:p.Leu789= | |
| NM_152629.4:c.1900C>T | NP_689842.3:p.Leu634= |