Linked Data
ClinVar Variation Id:
422728
dbSNP Id:
rs971882211
gnomAD v2:
16-68857307-G-C
gnomAD v3:
16-68823404-G-C
gnomAD v4:
16-68823404-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823404G>C , CM000678.2:g.68823404G>C | GRCh38 |
| NC_000016.9:g.68857307G>C , CM000678.1:g.68857307G>C | GRCh37 |
| NC_000016.8:g.67414808G>C | NCBI36 |
| NG_008021.1:g.91113G>C , LRG_301:g.91113G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1942G>C MANE Select | ENSP00000261769.4:p.Glu648Gln | |
| ENST00000261769.9:c.1942G>C | ENSP00000261769.4:p.Glu648Gln | |
| ENST00000422392.6:c.1759G>C | ENSP00000414946.2:p.Glu587Gln | |
| ENST00000562118.1:n.160G>C | ||
| ENST00000562836.5:n.2013G>C | ||
| ENST00000566510.5:c.*608G>C | ENSP00000458139.1:n.*608G>C | |
| ENST00000566612.5:c.*182G>C | ENSP00000454782.1:n.*182G>C | |
| ENST00000611625.4:c.2005G>C | ENSP00000481063.1:p.Glu669Gln | |
| ENST00000612417.4:c.1830+1285G>C | ENSP00000478360.1:n.1830+1285G>C | |
| ENST00000621016.4:c.1865+1250G>C | ENSP00000480664.1:n.1865+1250G>C | |
| NM_004360.3:c.1942G>C , LRG_301t1:c.1942G>C | NP_004351.1:p.Glu648Gln | |
| XM_011523488.1:c.1207G>C | XP_011521790.1:p.Glu403Gln | |
| XM_011523489.1:c.1207G>C | XP_011521791.1:p.Glu403Gln | |
| NM_001317184.1:c.1759G>C | NP_001304113.1:p.Glu587Gln | |
| NM_001317185.1:c.394G>C | NP_001304114.1:p.Glu132Gln | |
| NM_001317186.1:c.-24G>C | NP_001304115.1:n.-24G>C | |
| NM_004360.4:c.1942G>C | NP_004351.1:p.Glu648Gln | |
| NM_004360.5:c.1942G>C MANE Select | NP_004351.1:p.Glu648Gln | |
| NM_001317184.2:c.1759G>C | NP_001304113.1:p.Glu587Gln | |
| NM_001317185.2:c.394G>C | NP_001304114.1:p.Glu132Gln | |
| NM_001317186.2:c.-24G>C | NP_001304115.1:n.-24G>C |