Linked Data
ClinVar Variation Id:
285287
dbSNP Id:
rs61758751
ExAC:
3:128526409 C / G
gnomAD v2:
3-128526409-C-G
gnomAD v3:
3-128807566-C-G
gnomAD v4:
3-128807566-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128807566C>G , CM000665.2:g.128807566C>G | GRCh38 |
| NC_000003.11:g.128526409C>G , CM000665.1:g.128526409C>G | GRCh37 |
| NC_000003.10:g.130009099C>G | NCBI36 |
| NG_008070.1:g.86431C>G , LRG_266:g.86431C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265062.8:c.423C>G MANE Select | ENSP00000265062.3:p.Ala141= | |
| ENST00000490093.6:c.436C>G | ENSP00000418955.2:p.Leu146Val | |
| ENST00000493186.6:c.148-52C>G | ENSP00000417189.1:n.148-52C>G | |
| ENST00000674589.1:c.423C>G | ENSP00000502088.1:p.Ala141= | |
| ENST00000674593.1:n.421C>G | ||
| ENST00000674748.1:c.351C>G | ENSP00000502224.1:p.Ala117= | |
| ENST00000675342.1:c.423C>G | ENSP00000502486.1:p.Ala141= | |
| ENST00000675497.1:c.423C>G | ENSP00000502000.1:p.Ala141= | |
| ENST00000675712.1:n.1607C>G | ||
| ENST00000675864.1:c.423C>G | ENSP00000502566.1:p.Ala141= | |
| ENST00000676147.1:c.503C>G | ||
| ENST00000676214.1:c.423C>G | ENSP00000501618.1:p.Ala141= | |
| ENST00000676425.1:c.423C>G | ENSP00000502084.1:p.Ala141= | |
| ENST00000265062.7:c.423C>G | ENSP00000265062.3:p.Ala141= | |
| ENST00000464496.5:c.423C>G | ENSP00000417978.1:p.Ala141= | |
| ENST00000482525.5:c.282C>G | ENSP00000417668.1:p.Ala94= | |
| ENST00000483906.5:c.204C>G | ENSP00000417155.1:p.Ala68= | |
| ENST00000485280.1:c.181-5761C>G | ENSP00000418283.1:n.181-5761C>G | |
| ENST00000490093.5:c.300C>G | ENSP00000418955.1:p.Ala100= | |
| ENST00000493186.5:c.148-52C>G | ENSP00000417189.1:n.148-52C>G | |
| NM_004637.5:c.423C>G , LRG_266t1:c.423C>G | NP_004628.4:p.Ala141= | |
| XM_024453745.1:c.423C>G | XP_024309513.1:p.Ala141= | |
| XR_002959582.1:n.1607C>G | ||
| XR_002959583.1:n.1535C>G | ||
| NM_004637.6:c.423C>G MANE Select | NP_004628.4:p.Ala141= |