Linked Data
ClinVar Variation Id:
3173
dbSNP Id:
rs120074173
ExAC:
3:120352080 T / C
gnomAD v2:
3-120352080-T-C
gnomAD v3:
3-120633233-T-C
gnomAD v4:
3-120633233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633233T>C , CM000665.2:g.120633233T>C | GRCh38 |
| NC_000003.11:g.120352080T>C , CM000665.1:g.120352080T>C | GRCh37 |
| NC_000003.10:g.121834770T>C | NCBI36 |
| NG_011957.1:g.54249A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283871.10:c.1102A>G MANE Select | ENSP00000283871.5:p.Met368Val | |
| ENST00000283871.9:c.1102A>G | ENSP00000283871.5:p.Met368Val | |
| ENST00000470321.1:n.442A>G | ||
| ENST00000492108.5:c.381A>G | ENSP00000419838.1:n.381A>G | |
| NM_000187.3:c.1102A>G | NP_000178.2:p.Met368Val | |
| XM_005247412.1:c.877A>G | XP_005247469.1:p.Met293Val | |
| XM_005247412.2:c.877A>G | XP_005247469.1:p.Met293Val | |
| XM_017006277.2:c.679A>G | XP_016861766.1:p.Met227Val | |
| NM_000187.4:c.1102A>G MANE Select | NP_000178.2:p.Met368Val |