Linked Data
ClinVar Variation Id:
1738003
ClinVar RCV Id:
RCV002323493
gnomAD v4:
17-50199286-C-T
MyVariant Identifiers:
chr17:g.48276647C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199286C>T , CM000679.2:g.50199286C>T | GRCh38 |
| NC_000017.10:g.48276647C>T , CM000679.1:g.48276647C>T | GRCh37 |
| NC_000017.9:g.45631646C>T | NCBI36 |
| NG_007400.1:g.7354G>A , LRG_1:g.7354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.411G>A MANE Select | ENSP00000225964.6:p.Gln137= | |
| ENST00000225964.9:c.411G>A | ENSP00000225964.5:p.Gln137= | |
| ENST00000474644.1:n.632G>A | ||
| NM_000088.3:c.411G>A , LRG_1t1:c.411G>A | NP_000079.2:p.Gln137= | |
| XM_005257058.3:c.411G>A | XP_005257115.2:p.Gln137= | |
| XM_005257059.3:c.411G>A | XP_005257116.2:p.Gln137= | |
| XM_011524341.1:c.411G>A | XP_011522643.1:p.Gln137= | |
| XM_005257058.4:c.411G>A | XP_005257115.2:p.Gln137= | |
| XM_005257059.4:c.411G>A | XP_005257116.2:p.Gln137= | |
| NM_000088.4:c.411G>A MANE Select | NP_000079.2:p.Gln137= |