Linked Data
ClinVar Variation Id:
440725
ClinVar RCV Id:
RCV000508785
dbSNP Id:
rs886046435
gnomAD v4:
1-55063510-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063510G>C , CM000663.2:g.55063510G>C | GRCh38 |
| NC_000001.10:g.55529183G>C , CM000663.1:g.55529183G>C | GRCh37 |
| NC_000001.9:g.55301771G>C | NCBI36 |
| NG_009061.1:g.28964G>C , LRG_275:g.28964G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.*345G>C | ENSP00000501161.2:n.*345G>C | |
| ENST00000710286.1:c.2362G>C | ENSP00000518176.1:p.Glu788Gln | |
| ENST00000673903.1:c.1630G>C | ENSP00000501257.1:p.Glu544Gln | |
| ENST00000673913.1:c.855G>C | ENSP00000501161.1:n.855G>C | |
| ENST00000302118.5:c.2005G>C MANE Select | ENSP00000303208.5:p.Glu669Gln | |
| ENST00000490692.1:n.2551G>C | ||
| NM_174936.3:c.2005G>C , LRG_275t1:c.2005G>C | NP_777596.2:p.Glu669Gln | |
| NR_110451.1:n.1612G>C | ||
| XM_011541193.1:c.1126G>C | XP_011539495.1:p.Glu376Gln | |
| NM_174936.4:c.2005G>C MANE Select | NP_777596.2:p.Glu669Gln | |
| NR_110451.2:n.1612G>C |