Linked Data
ClinVar Variation Id:
127911
dbSNP Id:
rs374398608
ExAC:
16:68849431 A / C
gnomAD v2:
16-68849431-A-C
gnomAD v3:
16-68815528-A-C
gnomAD v4:
16-68815528-A-C
PubMed:
PMID:24556621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815528A>C , CM000678.2:g.68815528A>C | GRCh38 |
| NC_000016.9:g.68849431A>C , CM000678.1:g.68849431A>C | GRCh37 |
| NC_000016.8:g.67406932A>C | NCBI36 |
| NG_008021.1:g.83237A>C , LRG_301:g.83237A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1334A>C MANE Select | ENSP00000261769.4:p.Glu445Ala | |
| ENST00000261769.9:c.1334A>C | ENSP00000261769.4:p.Glu445Ala | |
| ENST00000422392.6:c.1151A>C | ENSP00000414946.2:p.Glu384Ala | |
| ENST00000562836.5:n.1405A>C | ||
| ENST00000566510.5:c.1245A>C | ENSP00000458139.1:p.Ter415Cys | |
| ENST00000566612.5:c.1334A>C | ENSP00000454782.1:p.Glu445Ala | |
| ENST00000611625.4:c.1397A>C | ENSP00000481063.1:p.Glu466Ala | |
| ENST00000612417.4:c.1334A>C | ENSP00000478360.1:p.Glu445Ala | |
| ENST00000621016.4:c.1334A>C | ENSP00000480664.1:p.Glu445Ala | |
| NM_004360.3:c.1334A>C , LRG_301t1:c.1334A>C | NP_004351.1:p.Glu445Ala | |
| XM_011523488.1:c.599A>C | XP_011521790.1:p.Glu200Ala | |
| XM_011523489.1:c.599A>C | XP_011521791.1:p.Glu200Ala | |
| NM_001317184.1:c.1151A>C | NP_001304113.1:p.Glu384Ala | |
| NM_001317185.1:c.-215A>C | NP_001304114.1:n.-215A>C | |
| NM_001317186.1:c.-486A>C | NP_001304115.1:n.-486A>C | |
| NM_004360.4:c.1334A>C | NP_004351.1:p.Glu445Ala | |
| NM_004360.5:c.1334A>C MANE Select | NP_004351.1:p.Glu445Ala | |
| NM_001317184.2:c.1151A>C | NP_001304113.1:p.Glu384Ala | |
| NM_001317185.2:c.-215A>C | NP_001304114.1:n.-215A>C | |
| NM_001317186.2:c.-486A>C | NP_001304115.1:n.-486A>C |