Linked Data
ClinVar Variation Id:
376171
ClinVar RCV Id:
RCV000431732
dbSNP Id:
rs535202189
ExAC:
2:212537981 C / T
gnomAD v2:
2-212537981-C-T
gnomAD v3:
2-211673256-C-T
gnomAD v4:
2-211673256-C-T
PubMed:
PMID:19718025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211673256C>T , CM000664.2:g.211673256C>T | GRCh38 |
| NC_000002.11:g.212537981C>T , CM000664.1:g.212537981C>T | GRCh37 |
| NC_000002.10:g.212246226C>T | NCBI36 |
| NG_011805.1:g.870372G>A | |
| NG_011805.2:g.870373G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260943.11:c.1624G>A | ENSP00000260943.7:p.Glu542Lys | |
| ENST00000342788.9:c.1624G>A MANE Select | ENSP00000342235.4:p.Glu542Lys | |
| ENST00000402597.6:c.1546G>A | ENSP00000385565.3:p.Glu516Lys | |
| ENST00000260943.10:c.1623G>A | ||
| ENST00000342788.8:c.1624G>A | ENSP00000342235.4:p.Glu542Lys | |
| ENST00000402597.5:c.1447G>A | ENSP00000385565.2:p.Glu483Lys | |
| ENST00000436443.5:c.1624G>A | ENSP00000403204.1:p.Glu542Lys | |
| ENST00000484594.5:n.1676G>A | ||
| NM_001042599.1:c.1624G>A | NP_001036064.1:p.Glu542Lys | |
| NM_005235.2:c.1624G>A | NP_005226.1:p.Glu542Lys | |
| XM_005246375.1:c.1624G>A | XP_005246432.1:p.Glu542Lys | |
| XM_005246376.1:c.1624G>A | XP_005246433.1:p.Glu542Lys | |
| XM_005246377.1:c.1624G>A | XP_005246434.1:p.Glu542Lys | |
| XM_006712364.1:c.1624G>A | XP_006712427.1:p.Glu542Lys | |
| XM_005246376.3:c.1624G>A | XP_005246433.1:p.Glu542Lys | |
| XM_005246377.3:c.1624G>A | XP_005246434.1:p.Glu542Lys | |
| XM_006712364.3:c.1624G>A | XP_006712427.1:p.Glu542Lys | |
| XM_017003577.2:c.1702G>A | XP_016859066.1:p.Glu568Lys | |
| XM_017003578.2:c.1702G>A | XP_016859067.1:p.Glu568Lys | |
| XM_017003579.2:c.1702G>A | XP_016859068.1:p.Glu568Lys | |
| XM_017003580.2:c.1702G>A | XP_016859069.1:p.Glu568Lys | |
| XM_017003581.2:c.1702G>A | XP_016859070.1:p.Glu568Lys | |
| XM_017003582.1:c.1003G>A | XP_016859071.1:p.Glu335Lys | |
| NM_005235.3:c.1624G>A MANE Select | NP_005226.1:p.Glu542Lys |