Linked Data
ClinVar Variation Id:
2346218
ClinVar RCV Id:
RCV004186653
dbSNP Id:
rs574061788
ExAC:
16:84270467 C / T
gnomAD v2:
16-84270467-C-T
gnomAD v3:
16-84236861-C-T
gnomAD v4:
16-84236861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84236861C>T , CM000678.2:g.84236861C>T | GRCh38 |
| NC_000016.9:g.84270467C>T , CM000678.1:g.84270467C>T | GRCh37 |
| NC_000016.8:g.82827968C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308251.6:c.625G>A MANE Select | ENSP00000312129.4:p.Glu209Lys | |
| ENST00000308251.5:c.625G>A | ENSP00000312129.4:p.Glu209Lys | |
| ENST00000568181.1:c.625G>A | ENSP00000457897.1:p.Glu209Lys | |
| NM_172347.2:c.625G>A | NP_758857.1:p.Glu209Lys | |
| NM_172347.3:c.625G>A MANE Select | NP_758857.1:p.Glu209Lys |