Linked Data
ClinVar Variation Id:
17309
ClinVar RCV Id:
RCV000018850
dbSNP Id:
rs72645365
PubMed:
PMID:1988452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195656C>A , CM000679.2:g.50195656C>A | GRCh38 |
| NC_000017.10:g.48273017C>A , CM000679.1:g.48273017C>A | GRCh37 |
| NC_000017.9:g.45628016C>A | NCBI36 |
| NG_007400.1:g.10984G>T , LRG_1:g.10984G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.1066G>T MANE Select | ENSP00000225964.6:p.Gly356Cys | |
| ENST00000225964.9:c.1066G>T | ENSP00000225964.5:p.Gly356Cys | |
| ENST00000471344.1:n.10G>T | ||
| NM_000088.3:c.1066G>T , LRG_1t1:c.1066G>T | NP_000079.2:p.Gly356Cys | |
| XM_005257058.3:c.1066G>T | XP_005257115.2:p.Gly356Cys | |
| XM_005257059.3:c.957+658G>T | XP_005257116.2:n.957+658G>T | |
| XM_011524341.1:c.958-178G>T | XP_011522643.1:n.958-178G>T | |
| XM_005257058.4:c.1066G>T | XP_005257115.2:p.Gly356Cys | |
| XM_005257059.4:c.957+658G>T | XP_005257116.2:n.957+658G>T | |
| NM_000088.4:c.1066G>T MANE Select | NP_000079.2:p.Gly356Cys |