Linked Data
ClinVar Variation Id:
1981682
ClinVar RCV Id:
RCV002751607
dbSNP Id:
rs773305791
ExAC:
17:48272095 G / T
gnomAD v2:
17-48272095-G-T
gnomAD v3:
17-50194734-G-T
gnomAD v4:
17-50194734-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194734G>T , CM000679.2:g.50194734G>T | GRCh38 |
| NC_000017.10:g.48272095G>T , CM000679.1:g.48272095G>T | GRCh37 |
| NC_000017.9:g.45627094G>T | NCBI36 |
| NG_007400.1:g.11906C>A , LRG_1:g.11906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1448C>A MANE Select | ENSP00000225964.6:p.Pro483His | |
| ENST00000225964.9:c.1448C>A | ENSP00000225964.5:p.Pro483His | |
| ENST00000471344.1:n.392C>A | ||
| NM_000088.3:c.1448C>A , LRG_1t1:c.1448C>A | NP_000079.2:p.Pro483His | |
| XM_005257058.3:c.1448C>A | XP_005257115.2:p.Pro483His | |
| XM_005257059.3:c.957+1580C>A | XP_005257116.2:n.957+1580C>A | |
| XM_011524341.1:c.1250C>A | XP_011522643.1:p.Pro417His | |
| XM_005257058.4:c.1448C>A | XP_005257115.2:p.Pro483His | |
| XM_005257059.4:c.957+1580C>A | XP_005257116.2:n.957+1580C>A | |
| NM_000088.4:c.1448C>A MANE Select | NP_000079.2:p.Pro483His |