Linked Data
dbSNP Id:
rs200911775
ExAC:
16:68867388 G / C
gnomAD v2:
16-68867388-G-C
gnomAD v4:
16-68833485-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833485G>C , CM000678.2:g.68833485G>C | GRCh38 |
| NC_000016.9:g.68867388G>C , CM000678.1:g.68867388G>C | GRCh37 |
| NC_000016.8:g.67424889G>C | NCBI36 |
| NG_008021.1:g.101194G>C , LRG_301:g.101194G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2635G>C MANE Select | ENSP00000261769.4:p.Gly879Arg | |
| ENST00000261769.9:c.2635G>C | ENSP00000261769.4:p.Gly879Arg | |
| ENST00000422392.6:c.2452G>C | ENSP00000414946.2:p.Gly818Arg | |
| ENST00000562118.1:n.853G>C | ||
| ENST00000562836.5:n.2706G>C | ||
| ENST00000566510.5:c.*1301G>C | ENSP00000458139.1:n.*1301G>C | |
| ENST00000566612.5:c.*875G>C | ENSP00000454782.1:n.*875G>C | |
| ENST00000611625.4:c.2698G>C | ENSP00000481063.1:p.Gly900Arg | |
| ENST00000612417.4:c.1854-706G>C | ENSP00000478360.1:n.1854-706G>C | |
| ENST00000621016.4:c.1866-718G>C | ENSP00000480664.1:n.1866-718G>C | |
| NM_004360.3:c.2635G>C , LRG_301t1:c.2635G>C | NP_004351.1:p.Gly879Arg | |
| XM_011523488.1:c.1900G>C | XP_011521790.1:p.Gly634Arg | |
| XM_011523489.1:c.1900G>C | XP_011521791.1:p.Gly634Arg | |
| NM_001317184.1:c.2452G>C | NP_001304113.1:p.Gly818Arg | |
| NM_001317185.1:c.1087G>C | NP_001304114.1:p.Gly363Arg | |
| NM_001317186.1:c.670G>C | NP_001304115.1:p.Gly224Arg | |
| NM_004360.4:c.2635G>C | NP_004351.1:p.Gly879Arg | |
| NM_004360.5:c.2635G>C MANE Select | NP_004351.1:p.Gly879Arg | |
| NM_001317184.2:c.2452G>C | NP_001304113.1:p.Gly818Arg | |
| NM_001317185.2:c.1087G>C | NP_001304114.1:p.Gly363Arg | |
| NM_001317186.2:c.670G>C | NP_001304115.1:p.Gly224Arg |