Linked Data
ClinVar Variation Id:
2783639
ClinVar RCV Id:
RCV003757336
dbSNP Id:
rs1166595391
gnomAD v2:
1-245027276-C-T
gnomAD v3:
1-244863974-C-T
gnomAD v4:
1-244863974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863974C>T , CM000663.2:g.244863974C>T | GRCh38 |
| NC_000001.10:g.245027276C>T , CM000663.1:g.245027276C>T | GRCh37 |
| NC_000001.9:g.243093899C>T | NCBI36 |
| NG_042184.1:g.5552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.12G>A | ||
| ENST00000283179.14:c.334G>A | ENSP00000283179.10:p.Ala112Thr | |
| ENST00000444376.7:c.334G>A | ENSP00000393151.2:p.Ala112Thr | |
| ENST00000476241.2:n.519G>A | ||
| ENST00000638475.1:c.118G>A | ENSP00000491305.1:p.Ala40Thr | |
| ENST00000638952.1:n.565G>A | ||
| ENST00000640218.2:c.334G>A MANE Select | ENSP00000491215.1:p.Ala112Thr | |
| ENST00000640306.1:c.334G>A | ENSP00000491685.1:p.Ala112Thr | |
| ENST00000640440.1:c.34G>A | ENSP00000491263.1:p.Ala12Thr | |
| ENST00000649899.1:n.558G>A | ||
| ENST00000283179.13:c.334G>A | ENSP00000283179.9:p.Ala112Thr | |
| ENST00000444376.6:c.334G>A | ENSP00000393151.2:p.Ala112Thr | |
| ENST00000476241.1:n.518G>A | ||
| NM_004501.3:c.334G>A | NP_004492.2:p.Ala112Thr | |
| NM_031844.2:c.334G>A | NP_114032.2:p.Ala112Thr | |
| NM_031844.3:c.334G>A MANE Select | NP_114032.2:p.Ala112Thr |