Linked Data
ClinVar Variation Id:
1319787
ClinVar RCV Id:
RCV002541034
dbSNP Id:
rs1365390122
gnomAD v2:
14-75469979-G-A
gnomAD v3:
14-75003276-G-A
gnomAD v4:
14-75003276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003276G>A , CM000676.2:g.75003276G>A | GRCh38 |
| NC_000014.8:g.75469979G>A , CM000676.1:g.75469979G>A | GRCh37 |
| NC_000014.7:g.74539732G>A | NCBI36 |
| NG_013333.1:g.5368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.165G>A MANE Select | ENSP00000266126.5:p.Gly55= | |
| ENST00000266126.9:c.165G>A | ENSP00000266126.5:p.Gly55= | |
| ENST00000553401.5:c.138G>A | ENSP00000451681.1:p.Gly46= | |
| ENST00000553539.1:n.305G>A | ||
| ENST00000555522.1:n.223G>A | ||
| ENST00000556028.5:c.165G>A | ENSP00000452311.1:p.Gly55= | |
| NM_014239.3:c.165G>A | NP_055054.1:p.Gly55= | |
| NM_014239.4:c.165G>A MANE Select | NP_055054.1:p.Gly55= |