Linked Data
ClinVar Variation Id:
3037730
ClinVar RCV Id:
RCV003917114
dbSNP Id:
rs36045790
ExAC:
2:27308159 G / A
gnomAD v2:
2-27308159-G-A
gnomAD v3:
2-27085291-G-A
gnomAD v4:
2-27085291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085291G>A , CM000664.2:g.27085291G>A | GRCh38 |
| NC_000002.11:g.27308159G>A , CM000664.1:g.27308159G>A | GRCh37 |
| NC_000002.10:g.27161663G>A | NCBI36 |
| NG_012199.1:g.3549G>A | |
| NG_046849.1:g.11725G>A | |
| NG_012199.2:g.3549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2707G>A MANE Select | ENSP00000369677.4:p.Glu903Lys | |
| ENST00000380320.8:c.2707G>A | ENSP00000369677.4:p.Glu903Lys | |
| ENST00000433140.1:c.699G>A | ||
| NM_007046.3:c.2707G>A | NP_008977.1:p.Glu903Lys | |
| XM_006711928.2:c.2575+283G>A | XP_006711991.1:n.2575+283G>A | |
| NM_007046.4:c.2707G>A MANE Select | NP_008977.1:p.Glu903Lys |