Linked Data
ClinVar Variation Id:
30544
dbSNP Id:
rs145303331
ExAC:
17:16220000 T / C
gnomAD v2:
17-16220000-T-C
gnomAD v3:
17-16316686-T-C
gnomAD v4:
17-16316686-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16316686T>C , CM000679.2:g.16316686T>C | GRCh38 |
| NC_000017.10:g.16220000T>C , CM000679.1:g.16220000T>C | GRCh37 |
| NC_000017.9:g.16160725T>C | NCBI36 |
| NG_032651.1:g.104492T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.500T>C MANE Select | ENSP00000225609.5:p.Leu167Pro | |
| ENST00000225609.9:c.500T>C | ENSP00000225609.5:p.Leu167Pro | |
| ENST00000395844.8:c.495-1089T>C | ENSP00000379185.3:n.495-1089T>C | |
| ENST00000477745.5:n.498T>C | ||
| ENST00000498772.6:n.517T>C | ||
| ENST00000580201.1:n.507-1089T>C | ||
| ENST00000581006.5:c.426+16708T>C | ENSP00000462432.1:n.426+16708T>C | |
| ENST00000584797.5:c.500T>C | ENSP00000463540.1:p.Leu167Pro | |
| ENST00000585034.5:c.*94T>C | ENSP00000464424.1:n.*94T>C | |
| ENST00000596678.2:c.69-1089T>C | ENSP00000470064.2:n.69-1089T>C | |
| NM_004278.3:c.500T>C | NP_004269.1:p.Leu167Pro | |
| XR_243571.2:n.518T>C | ||
| XR_429826.2:n.518T>C | ||
| XM_017025349.1:c.500T>C | XP_016880838.1:p.Leu167Pro | |
| XM_017025350.1:c.500T>C | XP_016880839.1:p.Leu167Pro | |
| XM_017025351.1:c.500T>C | XP_016880840.1:p.Leu167Pro | |
| XM_017025352.1:c.500T>C | XP_016880841.1:p.Leu167Pro | |
| XM_017025353.1:c.500T>C | XP_016880842.1:p.Leu167Pro | |
| XM_017025354.1:c.495-1089T>C | XP_016880843.1:n.495-1089T>C | |
| XM_017025355.1:c.495-1089T>C | XP_016880844.1:n.495-1089T>C | |
| XM_017025356.1:c.500T>C | XP_016880845.1:p.Leu167Pro | |
| NM_004278.4:c.500T>C MANE Select | NP_004269.1:p.Leu167Pro |