Linked Data
dbSNP Id:
rs2152138571
gnomAD v4:
16-68822197-C-A
MyVariant Identifiers:
chr16:g.68856100C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68822197C>A , CM000678.2:g.68822197C>A | GRCh38 |
| NC_000016.9:g.68856100C>A , CM000678.1:g.68856100C>A | GRCh37 |
| NC_000016.8:g.67413601C>A | NCBI36 |
| NG_008021.1:g.89906C>A , LRG_301:g.89906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1908C>A MANE Select | ENSP00000261769.4:p.Ala636= | |
| ENST00000261769.9:c.1908C>A | ENSP00000261769.4:p.Ala636= | |
| ENST00000422392.6:c.1725C>A | ENSP00000414946.2:p.Ala575= | |
| ENST00000562836.5:n.1979C>A | ||
| ENST00000566510.5:c.*574C>A | ENSP00000458139.1:n.*574C>A | |
| ENST00000566612.5:c.*148C>A | ENSP00000454782.1:n.*148C>A | |
| ENST00000611625.4:c.1971C>A | ENSP00000481063.1:p.Ala657= | |
| ENST00000612417.4:c.1830+78C>A | ENSP00000478360.1:n.1830+78C>A | |
| ENST00000621016.4:c.1865+43C>A | ENSP00000480664.1:n.1865+43C>A | |
| NM_004360.3:c.1908C>A , LRG_301t1:c.1908C>A | NP_004351.1:p.Ala636= | |
| XM_011523488.1:c.1173C>A | XP_011521790.1:p.Ala391= | |
| XM_011523489.1:c.1173C>A | XP_011521791.1:p.Ala391= | |
| NM_001317184.1:c.1725C>A | NP_001304113.1:p.Ala575= | |
| NM_001317185.1:c.360C>A | NP_001304114.1:p.Ala120= | |
| NM_001317186.1:c.-58C>A | NP_001304115.1:n.-58C>A | |
| NM_004360.4:c.1908C>A | NP_004351.1:p.Ala636= | |
| NM_004360.5:c.1908C>A MANE Select | NP_004351.1:p.Ala636= | |
| NM_001317184.2:c.1725C>A | NP_001304113.1:p.Ala575= | |
| NM_001317185.2:c.360C>A | NP_001304114.1:p.Ala120= | |
| NM_001317186.2:c.-58C>A | NP_001304115.1:n.-58C>A |