Linked Data
ClinVar Variation Id:
342736
ClinVar RCV Id:
RCV000271274
dbSNP Id:
rs140500816
ExAC:
3:120347359 T / C
gnomAD v2:
3-120347359-T-C
gnomAD v3:
3-120628512-T-C
gnomAD v4:
3-120628512-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628512T>C , CM000665.2:g.120628512T>C | GRCh38 |
| NC_000003.11:g.120347359T>C , CM000665.1:g.120347359T>C | GRCh37 |
| NC_000003.10:g.121830049T>C | NCBI36 |
| NG_011957.1:g.58970A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1206A>G MANE Select | ENSP00000283871.5:p.Ser402= | |
| ENST00000283871.9:c.1206A>G | ENSP00000283871.5:p.Ser402= | |
| ENST00000492108.5:c.485A>G | ENSP00000419838.1:n.485A>G | |
| NM_000187.3:c.1206A>G | NP_000178.2:p.Ser402= | |
| XM_005247412.1:c.981A>G | XP_005247469.1:p.Ser327= | |
| XM_005247412.2:c.981A>G | XP_005247469.1:p.Ser327= | |
| XM_017006277.2:c.783A>G | XP_016861766.1:p.Ser261= | |
| NM_000187.4:c.1206A>G MANE Select | NP_000178.2:p.Ser402= |