Linked Data
ClinVar Variation Id:
293416
ClinVar RCV Id:
RCV000279994
dbSNP Id:
rs144342633
ExAC:
1:16459744 C / T
gnomAD v2:
1-16459744-C-T
gnomAD v3:
1-16133249-C-T
gnomAD v4:
1-16133249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16133249C>T , CM000663.2:g.16133249C>T | GRCh38 |
| NC_000001.10:g.16459744C>T , CM000663.1:g.16459744C>T | GRCh37 |
| NC_000001.9:g.16332331C>T | NCBI36 |
| NG_021396.1:g.27839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1984G>A MANE Select | ENSP00000351209.5:p.Gly662Ser | |
| ENST00000358432.7:c.1984G>A | ENSP00000351209.5:p.Gly662Ser | |
| ENST00000462805.1:n.202G>A | ||
| NM_004431.3:c.1984G>A | NP_004422.2:p.Gly662Ser | |
| NM_001329090.1:c.1822G>A | NP_001316019.1:p.Gly608Ser | |
| NM_004431.4:c.1984G>A | NP_004422.2:p.Gly662Ser | |
| NM_004431.5:c.1984G>A MANE Select | NP_004422.2:p.Gly662Ser | |
| NM_001329090.2:c.1822G>A | NP_001316019.1:p.Gly608Ser |