Linked Data
ClinVar Variation Id:
463732
ClinVar RCV Id:
RCV001848935
dbSNP Id:
rs33935154
gnomAD v2:
16-68856041-G-T
gnomAD v4:
16-68822138-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68822138G>T , CM000678.2:g.68822138G>T | GRCh38 |
| NC_000016.9:g.68856041G>T , CM000678.1:g.68856041G>T | GRCh37 |
| NC_000016.8:g.67413542G>T | NCBI36 |
| NG_008021.1:g.89847G>T , LRG_301:g.89847G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1849G>T MANE Select | ENSP00000261769.4:p.Ala617Ser | |
| ENST00000261769.9:c.1849G>T | ENSP00000261769.4:p.Ala617Ser | |
| ENST00000422392.6:c.1666G>T | ENSP00000414946.2:p.Ala556Ser | |
| ENST00000562836.5:n.1920G>T | ||
| ENST00000566510.5:c.*515G>T | ENSP00000458139.1:n.*515G>T | |
| ENST00000566612.5:c.*89G>T | ENSP00000454782.1:n.*89G>T | |
| ENST00000611625.4:c.1912G>T | ENSP00000481063.1:p.Ala638Ser | |
| ENST00000612417.4:c.1830+19G>T | ENSP00000478360.1:n.1830+19G>T | |
| ENST00000621016.4:c.1849G>T | ENSP00000480664.1:p.Ala617Ser | |
| NM_004360.3:c.1849G>T , LRG_301t1:c.1849G>T | NP_004351.1:p.Ala617Ser | |
| XM_011523488.1:c.1114G>T | XP_011521790.1:p.Ala372Ser | |
| XM_011523489.1:c.1114G>T | XP_011521791.1:p.Ala372Ser | |
| NM_001317184.1:c.1666G>T | NP_001304113.1:p.Ala556Ser | |
| NM_001317185.1:c.301G>T | NP_001304114.1:p.Ala101Ser | |
| NM_001317186.1:c.-117G>T | NP_001304115.1:n.-117G>T | |
| NM_004360.4:c.1849G>T | NP_004351.1:p.Ala617Ser | |
| NM_004360.5:c.1849G>T MANE Select | NP_004351.1:p.Ala617Ser | |
| NM_001317184.2:c.1666G>T | NP_001304113.1:p.Ala556Ser | |
| NM_001317185.2:c.301G>T | NP_001304114.1:p.Ala101Ser | |
| NM_001317186.2:c.-117G>T | NP_001304115.1:n.-117G>T |