Linked Data
ClinVar Variation Id:
716025
ClinVar RCV Id:
RCV000888596
dbSNP Id:
rs74521692
ExAC:
6:25799043 C / T
gnomAD v2:
6-25799043-C-T
gnomAD v3:
6-25798815-C-T
gnomAD v4:
6-25798815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25798815C>T , CM000668.2:g.25798815C>T | GRCh38 |
| NC_000006.11:g.25799043C>T , CM000668.1:g.25799043C>T | GRCh37 |
| NC_000006.10:g.25907022C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.1374G>A MANE Select | ENSP00000244527.4:p.Trp458Ter | |
| ENST00000244527.8:c.1374G>A | ENSP00000244527.4:p.Trp458Ter | |
| ENST00000377886.6:c.*625G>A | ENSP00000367118.2:n.*625G>A | |
| ENST00000468082.1:c.1212G>A | ENSP00000420546.1:p.Trp404Ter | |
| ENST00000476801.5:c.1374G>A | ENSP00000420614.1:p.Trp458Ter | |
| NM_005074.3:c.1374G>A | NP_005065.2:p.Trp458Ter | |
| XM_011514818.1:c.1178+12583G>A | XP_011513120.1:n.1178+12583G>A | |
| XM_011514819.1:c.1287G>A | XP_011513121.1:p.Trp429Ter | |
| XM_011514820.1:c.1212G>A | XP_011513122.1:p.Trp404Ter | |
| XM_011514821.1:c.1161G>A | XP_011513123.1:p.Trp387Ter | |
| XM_011514818.2:c.1328+12583G>A | XP_011513120.2:n.1328+12583G>A | |
| XM_011514819.2:c.1437G>A | XP_011513121.2:p.Trp479Ter | |
| XM_011514820.2:c.1362G>A | XP_011513122.2:p.Trp454Ter | |
| XM_011514821.2:c.1161G>A | XP_011513123.1:p.Trp387Ter | |
| XM_017011199.1:c.1524G>A | XP_016866688.1:p.Trp508Ter | |
| XM_017011200.1:c.1524G>A | XP_016866689.1:p.Trp508Ter | |
| XM_017011201.2:c.1524G>A | XP_016866690.1:p.Trp508Ter | |
| XM_017011202.1:c.1440G>A | XP_016866691.1:p.Trp480Ter | |
| NM_005074.5:c.1374G>A MANE Select | NP_005065.2:p.Trp458Ter |