Linked Data
ClinVar Variation Id:
342735
ClinVar RCV Id:
RCV000365826
dbSNP Id:
rs146206905
ExAC:
3:120347344 C / T
gnomAD v2:
3-120347344-C-T
gnomAD v3:
3-120628497-C-T
gnomAD v4:
3-120628497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628497C>T , CM000665.2:g.120628497C>T | GRCh38 |
| NC_000003.11:g.120347344C>T , CM000665.1:g.120347344C>T | GRCh37 |
| NC_000003.10:g.121830034C>T | NCBI36 |
| NG_011957.1:g.58985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1221G>A MANE Select | ENSP00000283871.5:p.Ala407= | |
| ENST00000283871.9:c.1221G>A | ENSP00000283871.5:p.Ala407= | |
| ENST00000492108.5:c.500G>A | ENSP00000419838.1:n.500G>A | |
| NM_000187.3:c.1221G>A | NP_000178.2:p.Ala407= | |
| XM_005247412.1:c.996G>A | XP_005247469.1:p.Ala332= | |
| XM_005247412.2:c.996G>A | XP_005247469.1:p.Ala332= | |
| XM_017006277.2:c.798G>A | XP_016861766.1:p.Ala266= | |
| NM_000187.4:c.1221G>A MANE Select | NP_000178.2:p.Ala407= |