Linked Data
ClinVar Variation Id:
2943963
ClinVar RCV Id:
RCV003803521
dbSNP Id:
rs1456084751
gnomAD v2:
X-25028380-G-T
gnomAD v3:
X-25010263-G-T
gnomAD v4:
X-25010263-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010263G>T , CM000685.2:g.25010263G>T | GRCh38 |
| NC_000023.10:g.25028380G>T , CM000685.1:g.25028380G>T | GRCh37 |
| NC_000023.9:g.24938301G>T | NCBI36 |
| NG_008281.1:g.10686C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1116C>A MANE Select | ENSP00000368332.4:p.Val372= | |
| ENST00000379044.4:c.1116C>A | ENSP00000368332.4:p.Val372= | |
| NM_139058.2:c.1116C>A | NP_620689.1:p.Val372= | |
| NM_139058.3:c.1116C>A MANE Select | NP_620689.1:p.Val372= |