Linked Data
ClinVar Variation Id:
418140
ClinVar RCV Id:
RCV000659352
RCV001125674
RCV001125673
RCV001125672
RCV002279235
RCV001508818
RCV002413314
dbSNP Id:
rs1800211
ExAC:
17:48271380 C / T
gnomAD v2:
17-48271380-C-T
gnomAD v3:
17-50194019-C-T
gnomAD v4:
17-50194019-C-T
COSMIC:
COSM4067576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194019C>T , CM000679.2:g.50194019C>T | GRCh38 |
| NC_000017.10:g.48271380C>T , CM000679.1:g.48271380C>T | GRCh37 |
| NC_000017.9:g.45626379C>T | NCBI36 |
| NG_007400.1:g.12621G>A , LRG_1:g.12621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1691G>A MANE Select | ENSP00000225964.6:p.Arg564His | |
| ENST00000225964.9:c.1691G>A | ENSP00000225964.5:p.Arg564His | |
| ENST00000463440.1:n.81G>A | ||
| ENST00000471344.1:n.723G>A | ||
| ENST00000476387.1:n.40G>A | ||
| NM_000088.3:c.1691G>A , LRG_1t1:c.1691G>A | NP_000079.2:p.Arg564His | |
| XM_005257058.3:c.1691G>A | XP_005257115.2:p.Arg564His | |
| XM_005257059.3:c.958-1326G>A | XP_005257116.2:n.958-1326G>A | |
| XM_011524341.1:c.1493G>A | XP_011522643.1:p.Arg498His | |
| XM_005257058.4:c.1691G>A | XP_005257115.2:p.Arg564His | |
| XM_005257059.4:c.958-1326G>A | XP_005257116.2:n.958-1326G>A | |
| NM_000088.4:c.1691G>A MANE Select | NP_000079.2:p.Arg564His |