Linked Data
ClinVar Variation Id:
2071535
ClinVar RCV Id:
RCV002975654
dbSNP Id:
rs374990175
ExAC:
17:48270365 G / T
gnomAD v2:
17-48270365-G-T
gnomAD v3:
17-50193004-G-T
gnomAD v4:
17-50193004-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193004G>T , CM000679.2:g.50193004G>T | GRCh38 |
| NC_000017.10:g.48270365G>T , CM000679.1:g.48270365G>T | GRCh37 |
| NC_000017.9:g.45625364G>T | NCBI36 |
| NG_007400.1:g.13636C>A , LRG_1:g.13636C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1811C>A MANE Select | ENSP00000225964.6:p.Pro604His | |
| ENST00000225964.9:c.1811C>A | ENSP00000225964.5:p.Pro604His | |
| ENST00000476387.1:n.160C>A | ||
| NM_000088.3:c.1811C>A , LRG_1t1:c.1811C>A | NP_000079.2:p.Pro604His | |
| XM_005257058.3:c.1811C>A | XP_005257115.2:p.Pro604His | |
| XM_005257059.3:c.958-311C>A | XP_005257116.2:n.958-311C>A | |
| XM_011524341.1:c.1613C>A | XP_011522643.1:p.Pro538His | |
| XM_005257058.4:c.1811C>A | XP_005257115.2:p.Pro604His | |
| XM_005257059.4:c.958-311C>A | XP_005257116.2:n.958-311C>A | |
| NM_000088.4:c.1811C>A MANE Select | NP_000079.2:p.Pro604His |