Linked Data
ClinVar Variation Id:
1108270
ClinVar RCV Id:
RCV001433711
dbSNP Id:
rs4253044
ExAC:
10:50732591 A / G
gnomAD v2:
10-50732591-A-G
gnomAD v3:
10-49524545-A-G
gnomAD v4:
10-49524545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524545A>G , CM000672.2:g.49524545A>G | GRCh38 |
| NC_000010.10:g.50732591A>G , CM000672.1:g.50732591A>G | GRCh37 |
| NC_000010.9:g.50402597A>G | NCBI36 |
| NG_009442.1:g.19557T>C , LRG_465:g.19557T>C | |
| NG_033155.1:g.4737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.885T>C MANE Select | ENSP00000348089.5:p.Ala295= | |
| ENST00000447839.7:c.885T>C MANE Plus Clinical | ENSP00000387966.2:p.Ala295= | |
| ENST00000679596.1:c.*514T>C | ENSP00000504862.1:n.*514T>C | |
| ENST00000679811.1:n.968T>C | ||
| ENST00000680107.1:c.652+3872T>C | ENSP00000505909.1:n.652+3872T>C | |
| ENST00000680233.1:n.978T>C | ||
| ENST00000681632.1:n.963T>C | ||
| ENST00000681659.1:c.885T>C | ENSP00000505631.1:p.Ala295= | |
| ENST00000355832.9:c.885T>C | ENSP00000348089.5:p.Ala295= | |
| ENST00000447839.6:c.885T>C | ENSP00000387966.2:p.Ala295= | |
| ENST00000515869.1:c.885T>C | ENSP00000423550.1:p.Ala295= | |
| NM_000124.3:c.885T>C | NP_000115.1:p.Ala295= | |
| NM_001277058.1:c.885T>C | NP_001263987.1:p.Ala295= | |
| NM_001277059.1:c.885T>C | NP_001263988.1:p.Ala295= | |
| NM_001346440.1:c.885T>C | NP_001333369.1:p.Ala295= | |
| NM_000124.4:c.885T>C MANE Select | NP_000115.1:p.Ala295= | |
| NM_001277058.2:c.885T>C MANE Plus Clinical | NP_001263987.1:p.Ala295= | |
| NM_001277059.2:c.885T>C | NP_001263988.1:p.Ala295= | |
| NM_001346440.2:c.885T>C | NP_001333369.1:p.Ala295= |