Linked Data
ClinVar Variation Id:
1415174
ClinVar RCV Id:
RCV001945487
dbSNP Id:
rs373474549
ExAC:
17:48263204 C / T
gnomAD v2:
17-48263204-C-T
gnomAD v4:
17-50185843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185843C>T , CM000679.2:g.50185843C>T | GRCh38 |
| NC_000017.10:g.48263204C>T , CM000679.1:g.48263204C>T | GRCh37 |
| NC_000017.9:g.45618203C>T | NCBI36 |
| NG_007400.1:g.20797G>A , LRG_1:g.20797G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4183G>A MANE Select | ENSP00000225964.6:p.Glu1395Lys | |
| ENST00000225964.9:c.4183G>A | ENSP00000225964.5:p.Glu1395Lys | |
| NM_000088.3:c.4183G>A , LRG_1t1:c.4183G>A | NP_000079.2:p.Glu1395Lys | |
| XM_005257058.3:c.3913G>A | XP_005257115.2:p.Glu1305Lys | |
| XM_005257059.3:c.3265G>A | XP_005257116.2:p.Glu1089Lys | |
| XM_011524341.1:c.3985G>A | XP_011522643.1:p.Glu1329Lys | |
| XM_005257058.4:c.3913G>A | XP_005257115.2:p.Glu1305Lys | |
| XM_005257059.4:c.3265G>A | XP_005257116.2:p.Glu1089Lys | |
| NM_000088.4:c.4183G>A MANE Select | NP_000079.2:p.Glu1395Lys |