Linked Data
ClinVar Variation Id:
21332
ClinVar RCV Id:
RCV000020497
dbSNP Id:
rs113993984
ExAC:
14:51376773 C / T
gnomAD v2:
14-51376773-C-T
gnomAD v3:
14-50910055-C-T
gnomAD v4:
14-50910055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50910055C>T , CM000676.2:g.50910055C>T | GRCh38 |
| NC_000014.8:g.51376773C>T , CM000676.1:g.51376773C>T | GRCh37 |
| NC_000014.7:g.50446523C>T | NCBI36 |
| NG_012796.1:g.39476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.2017G>A MANE Select | ENSP00000216392.7:p.Glu673Lys | |
| ENST00000216392.7:c.2017G>A | ENSP00000216392.7:p.Glu673Lys | |
| ENST00000532107.2:n.190G>A | ||
| ENST00000532462.5:c.2017G>A | ENSP00000431657.1:p.Glu673Lys | |
| ENST00000544180.6:c.1915G>A | ENSP00000443787.1:p.Glu639Lys | |
| NM_001163940.1:c.1915G>A | NP_001157412.1:p.Glu639Lys | |
| NM_002863.4:c.2017G>A | NP_002854.3:p.Glu673Lys | |
| NM_002863.5:c.2017G>A MANE Select | NP_002854.3:p.Glu673Lys | |
| NM_001163940.2:c.1915G>A | NP_001157412.1:p.Glu639Lys |