Linked Data
ClinVar Variation Id:
2118250
ClinVar RCV Id:
RCV003030383
dbSNP Id:
rs543811185
gnomAD v2:
16-3778042-C-T
gnomAD v3:
16-3728041-C-T
gnomAD v4:
16-3728041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728041C>T , CM000678.2:g.3728041C>T | GRCh38 |
| NC_000016.9:g.3778042C>T , CM000678.1:g.3778042C>T | GRCh37 |
| NC_000016.8:g.3718043C>T | NCBI36 |
| NG_009873.1:g.157080G>A | |
| NG_009873.2:g.157673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7006G>A MANE Select | ENSP00000262367.5:p.Ala2336Thr | |
| ENST00000262367.9:c.7006G>A | ENSP00000262367.5:p.Ala2336Thr | |
| ENST00000382070.7:c.6892G>A | ENSP00000371502.3:p.Ala2298Thr | |
| NM_001079846.1:c.6892G>A | NP_001073315.1:p.Ala2298Thr | |
| NM_004380.2:c.7006G>A | NP_004371.2:p.Ala2336Thr | |
| XM_005255124.3:c.6961G>A | XP_005255181.1:p.Ala2321Thr | |
| XM_005255125.3:c.6589G>A | XP_005255182.1:p.Ala2197Thr | |
| XM_006720848.2:c.6745G>A | XP_006720911.1:p.Ala2249Thr | |
| XM_011522380.1:c.6952G>A | XP_011520682.1:p.Ala2318Thr | |
| XM_011522381.1:c.6253G>A | XP_011520683.1:p.Ala2085Thr | |
| XM_005255124.4:c.6961G>A | XP_005255181.1:p.Ala2321Thr | |
| XM_005255125.4:c.6589G>A | XP_005255182.1:p.Ala2197Thr | |
| XM_006720848.3:c.6745G>A | XP_006720911.1:p.Ala2249Thr | |
| XM_011522381.2:c.6253G>A | XP_011520683.1:p.Ala2085Thr | |
| XM_017022944.1:c.7000G>A | XP_016878433.1:p.Ala2334Thr | |
| NM_004380.3:c.7006G>A MANE Select | NP_004371.2:p.Ala2336Thr |