Linked Data
ClinVar Variation Id:
376498
ClinVar RCV Id:
RCV000423160
RCV000427369
RCV000433184
RCV000433868
RCV000438004
RCV000443225
RCV000443321
RCV000444028
RCV000485942
RCV000631216
RCV000767535
RCV000852337
RCV003985084
dbSNP Id:
rs1057519942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179203760G>A , CM000665.2:g.179203760G>A | GRCh38 |
| NC_000003.11:g.178921548G>A , CM000665.1:g.178921548G>A | GRCh37 |
| NC_000003.10:g.180404242G>A | NCBI36 |
| NG_012113.2:g.60238G>A , LRG_310:g.60238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1030G>A MANE Select | ENSP00000263967.3:p.Val344Met | |
| ENST00000643187.1:c.1030G>A | ENSP00000493507.1:p.Val344Met | |
| ENST00000674534.1:n.784G>A | ||
| ENST00000675467.1:n.3837G>A | ||
| ENST00000675786.1:c.1030G>A | ENSP00000502323.1:p.Val344Met | |
| ENST00000263967.3:c.1030G>A | ENSP00000263967.3:p.Val344Met | |
| NM_006218.2:c.1030G>A , LRG_310t1:c.1030G>A | NP_006209.2:p.Val344Met | |
| XM_006713658.2:c.1030G>A | XP_006713721.1:p.Val344Met | |
| XM_011512894.1:c.1030G>A | XP_011511196.1:p.Val344Met | |
| NM_006218.3:c.1030G>A | NP_006209.2:p.Val344Met | |
| XM_006713658.4:c.1030G>A | XP_006713721.1:p.Val344Met | |
| XM_011512894.2:c.1030G>A | XP_011511196.1:p.Val344Met | |
| NM_006218.4:c.1030G>A MANE Select | NP_006209.2:p.Val344Met |