Linked Data
ClinVar Variation Id:
17756
ClinVar RCV Id:
RCV000019333
RCV000298897
RCV000512811
RCV000494697
RCV001127848
RCV003993746
RCV004549379
dbSNP Id:
rs45562031
ExAC:
17:42338993 C / T
gnomAD v2:
17-42338993-C-T
gnomAD v3:
17-44261625-C-T
gnomAD v4:
17-44261625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44261625C>T , CM000679.2:g.44261625C>T | GRCh38 |
| NC_000017.10:g.42338993C>T , CM000679.1:g.42338993C>T | GRCh37 |
| NC_000017.9:g.39694519C>T | NCBI36 |
| NG_007498.1:g.11510G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.118G>A MANE Select | ENSP00000262418.6:p.Glu40Lys | |
| ENST00000262418.10:c.118G>A | ENSP00000262418.6:p.Glu40Lys | |
| ENST00000399246.3:c.118G>A | ENSP00000382190.3:p.Glu40Lys | |
| ENST00000471005.5:n.52G>A | ||
| ENST00000497360.5:n.257G>A | ||
| ENST00000498270.1:n.399G>A | ||
| NM_000342.3:c.118G>A | NP_000333.1:p.Glu40Lys | |
| XM_005257593.3:c.-78G>A | XP_005257650.1:n.-78G>A | |
| XM_011525129.1:c.118G>A | XP_011523431.1:p.Glu40Lys | |
| XM_011525130.1:c.118G>A | XP_011523432.1:p.Glu40Lys | |
| XM_011525131.1:c.118G>A | XP_011523433.1:p.Glu40Lys | |
| XM_005257593.5:c.-78G>A | XP_005257650.1:n.-78G>A | |
| XM_011525129.2:c.118G>A | XP_011523431.1:p.Glu40Lys | |
| NM_000342.4:c.118G>A MANE Select | NP_000333.1:p.Glu40Lys |