Linked Data
ClinVar Variation Id:
43723
ClinVar RCV Id:
RCV000036675
RCV000617184
RCV000777845
RCV001101824
RCV001101823
RCV001529567
RCV003996249
dbSNP Id:
rs369917806
ExAC:
1:237948149 C / A
gnomAD v2:
1-237948149-C-A
gnomAD v3:
1-237784849-C-A
gnomAD v4:
1-237784849-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784849C>A , CM000663.2:g.237784849C>A | GRCh38 |
| NC_000001.10:g.237948149C>A , CM000663.1:g.237948149C>A | GRCh37 |
| NC_000001.9:g.236014772C>A | NCBI36 |
| NG_008799.2:g.747448C>A | |
| NG_008799.3:g.747666C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*4229C>A | ENSP00000499659.2:n.*4229C>A | |
| ENST00000659194.3:c.13125C>A | ENSP00000499653.3:p.Ile4375= | |
| ENST00000660292.2:c.13158C>A | ENSP00000499787.2:p.Ile4386= | |
| ENST00000659194.2:c.5314C>A | ||
| ENST00000366574.7:c.13137C>A MANE Select | ENSP00000355533.2:p.Ile4379= | |
| ENST00000659194.1:c.5314C>A | ||
| ENST00000660292.1:c.3190C>A | ||
| ENST00000360064.7:c.13089C>A | ENSP00000353174.7:p.Ile4363= | |
| ENST00000366574.6:c.13137C>A | ENSP00000355533.2:p.Ile4379= | |
| ENST00000609119.1:n.4332C>A | ||
| NM_001035.2:c.13137C>A | NP_001026.2:p.Ile4379= | |
| XM_006711802.2:c.13191C>A | XP_006711865.1:p.Ile4397= | |
| XM_006711803.2:c.13188C>A | XP_006711866.1:p.Ile4396= | |
| XM_006711804.2:c.13167C>A | XP_006711867.1:p.Ile4389= | |
| XM_006711805.2:c.13161C>A | XP_006711868.1:p.Ile4387= | |
| XM_006711806.2:c.13155C>A | XP_006711869.1:p.Ile4385= | |
| XM_006711807.2:c.13131C>A | XP_006711870.1:p.Ile4377= | |
| XM_006711808.2:c.12954C>A | XP_006711871.1:p.Ile4318= | |
| XM_006711810.2:c.13098C>A | XP_006711873.1:p.Ile4366= | |
| XM_006711802.3:c.13191C>A | XP_006711865.1:p.Ile4397= | |
| XM_006711803.3:c.13188C>A | XP_006711866.1:p.Ile4396= | |
| XM_006711804.3:c.13167C>A | XP_006711867.1:p.Ile4389= | |
| XM_006711805.3:c.13161C>A | XP_006711868.1:p.Ile4387= | |
| XM_006711806.3:c.13155C>A | XP_006711869.1:p.Ile4385= | |
| XM_006711807.3:c.13131C>A | XP_006711870.1:p.Ile4377= | |
| XM_006711808.3:c.12954C>A | XP_006711871.1:p.Ile4318= | |
| XM_006711810.3:c.13098C>A | XP_006711873.1:p.Ile4366= | |
| XM_017002028.1:c.13170C>A | XP_016857517.1:p.Ile4390= | |
| NM_001035.3:c.13137C>A MANE Select | NP_001026.2:p.Ile4379= |