Linked Data
dbSNP Id:
rs1555517873
gnomAD v4:
16-68829722-A-C
MyVariant Identifiers:
chr16:g.68863625A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829722A>C , CM000678.2:g.68829722A>C | GRCh38 |
| NC_000016.9:g.68863625A>C , CM000678.1:g.68863625A>C | GRCh37 |
| NC_000016.8:g.67421126A>C | NCBI36 |
| NG_008021.1:g.97431A>C , LRG_301:g.97431A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2364A>C MANE Select | ENSP00000261769.4:p.Ala788= | |
| ENST00000261769.9:c.2364A>C | ENSP00000261769.4:p.Ala788= | |
| ENST00000422392.6:c.2181A>C | ENSP00000414946.2:p.Ala727= | |
| ENST00000562118.1:n.582A>C | ||
| ENST00000562836.5:n.2435A>C | ||
| ENST00000566510.5:c.*1030A>C | ENSP00000458139.1:n.*1030A>C | |
| ENST00000566612.5:c.*604A>C | ENSP00000454782.1:n.*604A>C | |
| ENST00000611625.4:c.2427A>C | ENSP00000481063.1:p.Ala809= | |
| ENST00000612417.4:c.1853+3168A>C | ENSP00000478360.1:n.1853+3168A>C | |
| ENST00000621016.4:c.1866-4481A>C | ENSP00000480664.1:n.1866-4481A>C | |
| NM_004360.3:c.2364A>C , LRG_301t1:c.2364A>C | NP_004351.1:p.Ala788= | |
| XM_011523488.1:c.1629A>C | XP_011521790.1:p.Ala543= | |
| XM_011523489.1:c.1629A>C | XP_011521791.1:p.Ala543= | |
| NM_001317184.1:c.2181A>C | NP_001304113.1:p.Ala727= | |
| NM_001317185.1:c.816A>C | NP_001304114.1:p.Ala272= | |
| NM_001317186.1:c.399A>C | NP_001304115.1:p.Ala133= | |
| NM_004360.4:c.2364A>C | NP_004351.1:p.Ala788= | |
| NM_004360.5:c.2364A>C MANE Select | NP_004351.1:p.Ala788= | |
| NM_001317184.2:c.2181A>C | NP_001304113.1:p.Ala727= | |
| NM_001317185.2:c.816A>C | NP_001304114.1:p.Ala272= | |
| NM_001317186.2:c.399A>C | NP_001304115.1:p.Ala133= |