Linked Data
ClinVar Variation Id:
526846
dbSNP Id:
rs757147791
ExAC:
17:48270383 C / T
gnomAD v2:
17-48270383-C-T
gnomAD v3:
17-50193022-C-T
gnomAD v4:
17-50193022-C-T
COSMIC:
COSM4531485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193022C>T , CM000679.2:g.50193022C>T | GRCh38 |
| NC_000017.10:g.48270383C>T , CM000679.1:g.48270383C>T | GRCh37 |
| NC_000017.9:g.45625382C>T | NCBI36 |
| NG_007400.1:g.13618G>A , LRG_1:g.13618G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1793G>A MANE Select | ENSP00000225964.6:p.Arg598Gln | |
| ENST00000225964.9:c.1793G>A | ENSP00000225964.5:p.Arg598Gln | |
| ENST00000476387.1:n.142G>A | ||
| NM_000088.3:c.1793G>A , LRG_1t1:c.1793G>A | NP_000079.2:p.Arg598Gln | |
| XM_005257058.3:c.1793G>A | XP_005257115.2:p.Arg598Gln | |
| XM_005257059.3:c.958-329G>A | XP_005257116.2:n.958-329G>A | |
| XM_011524341.1:c.1595G>A | XP_011522643.1:p.Arg532Gln | |
| XM_005257058.4:c.1793G>A | XP_005257115.2:p.Arg598Gln | |
| XM_005257059.4:c.958-329G>A | XP_005257116.2:n.958-329G>A | |
| NM_000088.4:c.1793G>A MANE Select | NP_000079.2:p.Arg598Gln |