Linked Data
ClinVar Variation Id:
2907847
ClinVar RCV Id:
RCV003632745
dbSNP Id:
rs766308522
ExAC:
17:48271386 T / C
gnomAD v2:
17-48271386-T-C
gnomAD v4:
17-50194025-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194025T>C , CM000679.2:g.50194025T>C | GRCh38 |
| NC_000017.10:g.48271386T>C , CM000679.1:g.48271386T>C | GRCh37 |
| NC_000017.9:g.45626385T>C | NCBI36 |
| NG_007400.1:g.12615A>G , LRG_1:g.12615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1685A>G MANE Select | ENSP00000225964.6:p.Asp562Gly | |
| ENST00000225964.9:c.1685A>G | ENSP00000225964.5:p.Asp562Gly | |
| ENST00000463440.1:n.75A>G | ||
| ENST00000471344.1:n.717A>G | ||
| ENST00000476387.1:n.34A>G | ||
| NM_000088.3:c.1685A>G , LRG_1t1:c.1685A>G | NP_000079.2:p.Asp562Gly | |
| XM_005257058.3:c.1685A>G | XP_005257115.2:p.Asp562Gly | |
| XM_005257059.3:c.958-1332A>G | XP_005257116.2:n.958-1332A>G | |
| XM_011524341.1:c.1487A>G | XP_011522643.1:p.Asp496Gly | |
| XM_005257058.4:c.1685A>G | XP_005257115.2:p.Asp562Gly | |
| XM_005257059.4:c.958-1332A>G | XP_005257116.2:n.958-1332A>G | |
| NM_000088.4:c.1685A>G MANE Select | NP_000079.2:p.Asp562Gly |