Linked Data
ClinVar Variation Id:
483245
ClinVar RCV Id:
RCV000573911
dbSNP Id:
rs876659951
gnomAD v3:
16-68829691-C-A
gnomAD v4:
16-68829691-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829691C>A , CM000678.2:g.68829691C>A | GRCh38 |
| NC_000016.9:g.68863594C>A , CM000678.1:g.68863594C>A | GRCh37 |
| NC_000016.8:g.67421095C>A | NCBI36 |
| NG_008021.1:g.97400C>A , LRG_301:g.97400C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2333C>A MANE Select | ENSP00000261769.4:p.Ala778Asp | |
| ENST00000261769.9:c.2333C>A | ENSP00000261769.4:p.Ala778Asp | |
| ENST00000422392.6:c.2150C>A | ENSP00000414946.2:p.Ala717Asp | |
| ENST00000562118.1:n.551C>A | ||
| ENST00000562836.5:n.2404C>A | ||
| ENST00000566510.5:c.*999C>A | ENSP00000458139.1:n.*999C>A | |
| ENST00000566612.5:c.*573C>A | ENSP00000454782.1:n.*573C>A | |
| ENST00000611625.4:c.2396C>A | ENSP00000481063.1:p.Ala799Asp | |
| ENST00000612417.4:c.1853+3137C>A | ENSP00000478360.1:n.1853+3137C>A | |
| ENST00000621016.4:c.1866-4512C>A | ENSP00000480664.1:n.1866-4512C>A | |
| NM_004360.3:c.2333C>A , LRG_301t1:c.2333C>A | NP_004351.1:p.Ala778Asp | |
| XM_011523488.1:c.1598C>A | XP_011521790.1:p.Ala533Asp | |
| XM_011523489.1:c.1598C>A | XP_011521791.1:p.Ala533Asp | |
| NM_001317184.1:c.2150C>A | NP_001304113.1:p.Ala717Asp | |
| NM_001317185.1:c.785C>A | NP_001304114.1:p.Ala262Asp | |
| NM_001317186.1:c.368C>A | NP_001304115.1:p.Ala123Asp | |
| NM_004360.4:c.2333C>A | NP_004351.1:p.Ala778Asp | |
| NM_004360.5:c.2333C>A MANE Select | NP_004351.1:p.Ala778Asp | |
| NM_001317184.2:c.2150C>A | NP_001304113.1:p.Ala717Asp | |
| NM_001317185.2:c.785C>A | NP_001304114.1:p.Ala262Asp | |
| NM_001317186.2:c.368C>A | NP_001304115.1:p.Ala123Asp |