Linked Data
ClinVar Variation Id:
2982894
ClinVar RCV Id:
RCV003845525
dbSNP Id:
rs1250866602
gnomAD v2:
1-67724733-G-C
gnomAD v4:
1-67259050-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259050G>C , CM000663.2:g.67259050G>C | GRCh38 |
| NC_000001.10:g.67724733G>C , CM000663.1:g.67724733G>C | GRCh37 |
| NC_000001.9:g.67497321G>C | NCBI36 |
| NG_011498.1:g.97565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1651G>C | ENSP00000513138.1:n.1651G>C | |
| ENST00000697150.1:c.1709G>C | ENSP00000513139.1:n.1709G>C | |
| ENST00000697151.1:c.1642G>C | ENSP00000513140.1:n.1642G>C | |
| ENST00000697164.1:c.1722G>C | ENSP00000513153.1:p.Glu574Asp | |
| ENST00000697165.1:c.1509G>C | ENSP00000513154.1:p.Glu503Asp | |
| ENST00000347310.10:c.1812G>C MANE Select | ENSP00000321345.5:p.Glu604Asp | |
| ENST00000637002.1:c.1203G>C | ENSP00000490340.1:p.Glu401Asp | |
| ENST00000347310.9:c.1812G>C | ENSP00000321345.5:p.Glu604Asp | |
| ENST00000395227.2:c.606G>C | ENSP00000378652.2:p.Glu202Asp | |
| ENST00000425614.3:c.1047G>C | ENSP00000387640.2:p.Glu349Asp | |
| ENST00000473881.2:c.*638G>C | ENSP00000486667.1:n.*638G>C | |
| NM_144701.2:c.1812G>C | NP_653302.2:p.Glu604Asp | |
| XM_005270516.2:c.1050G>C | XP_005270573.1:p.Glu350Asp | |
| XM_011540789.1:c.1902G>C | XP_011539091.1:p.Glu634Asp | |
| XM_011540790.1:c.1812G>C | XP_011539092.1:p.Glu604Asp | |
| XM_011540791.1:c.1812G>C | XP_011539093.1:p.Glu604Asp | |
| XM_011540790.3:c.1812G>C | XP_011539092.1:p.Glu604Asp | |
| XM_011540791.3:c.1812G>C | XP_011539093.1:p.Glu604Asp | |
| XR_001736993.1:n.1892G>C | ||
| NM_144701.3:c.1812G>C MANE Select | NP_653302.2:p.Glu604Asp |