Linked Data
ClinVar Variation Id:
492762
ClinVar RCV Id:
RCV000581861
dbSNP Id:
rs767765046
ExAC:
9:99015087 A / G
gnomAD v2:
9-99015087-A-G
gnomAD v4:
9-96252805-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96252805A>G , CM000671.2:g.96252805A>G | GRCh38 |
| NC_000009.11:g.99015087A>G , CM000671.1:g.99015087A>G | GRCh37 |
| NC_000009.10:g.98054908A>G | NCBI36 |
| NG_008157.1:g.54348T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.383T>C (HSD17B3) | ENSP00000364411.2:p.Leu128Ser | |
| ENST00000375263.8:c.383T>C (HSD17B3) MANE Select | ENSP00000364412.3:p.Leu128Ser | |
| ENST00000463517.2:n.1192T>C | ||
| ENST00000464104.6:n.853T>C | ||
| ENST00000467499.6:c.*82T>C (HSD17B3) | ENSP00000498077.1:n.*82T>C | |
| ENST00000643789.1:c.2675T>C | ||
| ENST00000648146.1:c.383T>C (HSD17B3) | ENSP00000497238.1:p.Leu128Ser | |
| ENST00000648332.1:c.202-7379T>C (HSD17B3) | ENSP00000497562.1:n.202-7379T>C | |
| ENST00000648799.1:c.278-1320T>C (HSD17B3) | ENSP00000498039.1:n.278-1320T>C | |
| ENST00000650005.1:c.383T>C (HSD17B3) | ENSP00000498121.1:p.Leu128Ser | |
| ENST00000650386.1:c.383T>C (HSD17B3) | ENSP00000497464.1:p.Leu128Ser | |
| ENST00000375262.3:c.383T>C (HSD17B3) | ENSP00000364411.2:p.Leu128Ser | |
| ENST00000375263.7:c.383T>C (HSD17B3) | ENSP00000364412.3:p.Leu128Ser | |
| ENST00000463517.1:n.140T>C (HSD17B3) | ||
| NM_000197.1:c.383T>C (HSD17B3) | NP_000188.1:p.Leu128Ser | |
| XM_006717095.2:c.383T>C (HSD17B3) | XP_006717158.1:p.Leu128Ser | |
| XM_011518618.1:c.383T>C (HSD17B3) | XP_011516920.1:p.Leu128Ser | |
| XM_011518619.1:c.383T>C (HSD17B3) | XP_011516921.1:p.Leu128Ser | |
| XM_011518620.1:c.278-1320T>C (HSD17B3) | XP_011516922.1:n.278-1320T>C | |
| XM_011518621.1:c.383T>C (HSD17B3) | XP_011516923.1:p.Leu128Ser | |
| XR_930147.1:n.1289-4143A>G (HSD17B3-AS1) | ||
| XR_930148.1:n.1289-4143A>G (HSD17B3-AS1) | ||
| NM_000197.2:c.383T>C (HSD17B3) MANE Select | NP_000188.1:p.Leu128Ser | |
| XM_011518618.2:c.383T>C (HSD17B3) | XP_011516920.1:p.Leu128Ser | |
| XM_011518619.2:c.383T>C (HSD17B3) | XP_011516921.1:p.Leu128Ser | |
| XM_017014671.1:c.383T>C (HSD17B3) | XP_016870160.1:p.Leu128Ser | |
| XM_017014672.1:c.383T>C (HSD17B3) | XP_016870161.1:p.Leu128Ser | |
| XM_017014673.2:c.383T>C (HSD17B3) | XP_016870162.1:p.Leu128Ser | |
| XM_017014674.1:c.278-1320T>C (HSD17B3) | XP_016870163.1:n.278-1320T>C | |
| XM_017014675.1:c.221T>C (HSD17B3) | XP_016870164.1:p.Leu74Ser | |
| XM_017014677.1:c.-554T>C (HSD17B3) | XP_016870166.1:n.-554T>C | |
| XM_024447529.1:c.221T>C (HSD17B3) | XP_024303297.1:p.Leu74Ser | |
| XR_002956778.1:n.2817T>C (HSD17B3) |