Linked Data
ClinVar Variation Id:
1549068
ClinVar RCV Id:
RCV002180298
dbSNP Id:
rs752977564
ExAC:
12:49433283 C / T
gnomAD v2:
12-49433283-C-T
gnomAD v4:
12-49039500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039500C>T , CM000674.2:g.49039500C>T | GRCh38 |
| NC_000012.11:g.49433283C>T , CM000674.1:g.49433283C>T | GRCh37 |
| NC_000012.10:g.47719550C>T | NCBI36 |
| NG_027827.1:g.20825G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.8164G>A | ENSP00000506726.1:p.Ala2722Thr | |
| ENST00000685166.1:c.8173G>A | ENSP00000509386.1:p.Ala2725Thr | |
| ENST00000689060.1:c.2183G>A | ||
| ENST00000689143.1:c.1837G>A | ENSP00000509839.1:p.Ala613Thr | |
| ENST00000689944.1:c.2273G>A | ||
| ENST00000692637.1:c.8161G>A | ENSP00000509666.1:p.Ala2721Thr | |
| ENST00000301067.12:c.8164G>A MANE Select | ENSP00000301067.7:p.Ala2722Thr | |
| ENST00000301067.11:c.8164G>A | ENSP00000301067.7:p.Ala2722Thr | |
| NM_003482.3:c.8164G>A | NP_003473.3:p.Ala2722Thr | |
| XM_005269162.3:c.8164G>A | XP_005269219.1:p.Ala2722Thr | |
| XM_006719614.2:c.8173G>A | XP_006719677.1:p.Ala2725Thr | |
| XM_006719616.2:c.8161G>A | XP_006719679.1:p.Ala2721Thr | |
| XM_011538770.1:c.8173G>A | XP_011537072.1:p.Ala2725Thr | |
| XM_011538771.1:c.8170G>A | XP_011537073.1:p.Ala2724Thr | |
| XM_011538772.1:c.8164G>A | XP_011537074.1:p.Ala2722Thr | |
| XM_011538773.1:c.8161G>A | XP_011537075.1:p.Ala2721Thr | |
| XM_011538774.1:c.8152G>A | XP_011537076.1:p.Ala2718Thr | |
| XM_011538775.1:c.8173G>A | XP_011537077.1:p.Ala2725Thr | |
| XM_011538776.1:c.8080G>A | XP_011537078.1:p.Ala2694Thr | |
| XR_944740.1:n.10493G>A | ||
| XM_005269162.4:c.8164G>A | XP_005269219.1:p.Ala2722Thr | |
| XM_006719614.4:c.8173G>A | XP_006719677.1:p.Ala2725Thr | |
| XM_006719616.3:c.8161G>A | XP_006719679.1:p.Ala2721Thr | |
| XM_011538770.2:c.8173G>A | XP_011537072.1:p.Ala2725Thr | |
| XM_011538771.2:c.8170G>A | XP_011537073.1:p.Ala2724Thr | |
| XM_011538772.2:c.8164G>A | XP_011537074.1:p.Ala2722Thr | |
| XM_011538773.2:c.8161G>A | XP_011537075.1:p.Ala2721Thr | |
| XM_011538774.2:c.8152G>A | XP_011537076.1:p.Ala2718Thr | |
| XM_011538776.2:c.8080G>A | XP_011537078.1:p.Ala2694Thr | |
| XR_001748874.1:n.9482G>A | ||
| NM_003482.4:c.8164G>A MANE Select | NP_003473.3:p.Ala2722Thr |