Linked Data
ClinVar Variation Id:
2768412
ClinVar RCV Id:
RCV003517758
dbSNP Id:
rs745932436
ExAC:
17:48274560 C / T
gnomAD v2:
17-48274560-C-T
gnomAD v3:
17-50197199-C-T
gnomAD v4:
17-50197199-C-T
COSMIC:
COSM87747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197199C>T , CM000679.2:g.50197199C>T | GRCh38 |
| NC_000017.10:g.48274560C>T , CM000679.1:g.48274560C>T | GRCh37 |
| NC_000017.9:g.45629559C>T | NCBI36 |
| NG_007400.1:g.9441G>A , LRG_1:g.9441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.731G>A MANE Select | ENSP00000225964.6:p.Arg244His | |
| ENST00000225964.9:c.731G>A | ENSP00000225964.5:p.Arg244His | |
| ENST00000495677.1:n.458G>A | ||
| NM_000088.3:c.731G>A , LRG_1t1:c.731G>A | NP_000079.2:p.Arg244His | |
| XM_005257058.3:c.731G>A | XP_005257115.2:p.Arg244His | |
| XM_005257059.3:c.731G>A | XP_005257116.2:p.Arg244His | |
| XM_011524341.1:c.731G>A | XP_011522643.1:p.Arg244His | |
| XM_005257058.4:c.731G>A | XP_005257115.2:p.Arg244His | |
| XM_005257059.4:c.731G>A | XP_005257116.2:p.Arg244His | |
| NM_000088.4:c.731G>A MANE Select | NP_000079.2:p.Arg244His |