Linked Data
ClinVar Variation Id:
4880
dbSNP Id:
rs119481079
ExAC:
9:99013764 T / C
gnomAD v2:
9-99013764-T-C
gnomAD v3:
9-96251482-T-C
gnomAD v4:
9-96251482-T-C
PubMed:
PMID:9709959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96251482T>C , CM000671.2:g.96251482T>C | GRCh38 |
| NC_000009.11:g.99013764T>C , CM000671.1:g.99013764T>C | GRCh37 |
| NC_000009.10:g.98053585T>C | NCBI36 |
| NG_008157.1:g.55671A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375262.4:c.389A>G (HSD17B3) | ENSP00000364411.2:p.Asn130Ser | |
| ENST00000375263.8:c.389A>G (HSD17B3) MANE Select | ENSP00000364412.3:p.Asn130Ser | |
| ENST00000463517.2:n.1198A>G | ||
| ENST00000464104.6:n.859A>G | ||
| ENST00000467499.6:c.*88A>G (HSD17B3) | ENSP00000498077.1:n.*88A>G | |
| ENST00000643789.1:c.2681A>G | ||
| ENST00000648146.1:c.389A>G (HSD17B3) | ENSP00000497238.1:p.Asn130Ser | |
| ENST00000648332.1:c.202-6056A>G (HSD17B3) | ENSP00000497562.1:n.202-6056A>G | |
| ENST00000648799.1:c.281A>G (HSD17B3) | ENSP00000498039.1:p.Asn94Ser | |
| ENST00000650005.1:c.389A>G (HSD17B3) | ENSP00000498121.1:p.Asn130Ser | |
| ENST00000650386.1:c.389A>G (HSD17B3) | ENSP00000497464.1:p.Asn130Ser | |
| ENST00000375262.3:c.389A>G (HSD17B3) | ENSP00000364411.2:p.Asn130Ser | |
| ENST00000375263.7:c.389A>G (HSD17B3) | ENSP00000364412.3:p.Asn130Ser | |
| ENST00000463517.1:n.146A>G (HSD17B3) | ||
| NM_000197.1:c.389A>G (HSD17B3) | NP_000188.1:p.Asn130Ser | |
| XM_006717095.2:c.389A>G (HSD17B3) | XP_006717158.1:p.Asn130Ser | |
| XM_011518618.1:c.389A>G (HSD17B3) | XP_011516920.1:p.Asn130Ser | |
| XM_011518619.1:c.389A>G (HSD17B3) | XP_011516921.1:p.Asn130Ser | |
| XM_011518620.1:c.281A>G (HSD17B3) | XP_011516922.1:p.Asn94Ser | |
| XM_011518621.1:c.389A>G (HSD17B3) | XP_011516923.1:p.Asn130Ser | |
| XR_930147.1:n.1288+4147T>C (HSD17B3-AS1) | ||
| XR_930148.1:n.1288+4147T>C (HSD17B3-AS1) | ||
| NM_000197.2:c.389A>G (HSD17B3) MANE Select | NP_000188.1:p.Asn130Ser | |
| XM_011518618.2:c.389A>G (HSD17B3) | XP_011516920.1:p.Asn130Ser | |
| XM_011518619.2:c.389A>G (HSD17B3) | XP_011516921.1:p.Asn130Ser | |
| XM_017014671.1:c.389A>G (HSD17B3) | XP_016870160.1:p.Asn130Ser | |
| XM_017014672.1:c.389A>G (HSD17B3) | XP_016870161.1:p.Asn130Ser | |
| XM_017014673.2:c.389A>G (HSD17B3) | XP_016870162.1:p.Asn130Ser | |
| XM_017014674.1:c.281A>G (HSD17B3) | XP_016870163.1:p.Asn94Ser | |
| XM_017014675.1:c.227A>G (HSD17B3) | XP_016870164.1:p.Asn76Ser | |
| XM_017014677.1:c.-548A>G (HSD17B3) | XP_016870166.1:n.-548A>G | |
| XM_024447529.1:c.227A>G (HSD17B3) | XP_024303297.1:p.Asn76Ser | |
| XR_002956778.1:n.2823A>G (HSD17B3) |