Linked Data
ClinVar Variation Id:
1462349
ClinVar RCV Id:
RCV001954236
dbSNP Id:
rs774553761
ExAC:
16:23546250 G / C
gnomAD v2:
16-23546250-G-C
gnomAD v3:
16-23534929-G-C
gnomAD v4:
16-23534929-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23534929G>C , CM000678.2:g.23534929G>C | GRCh38 |
| NC_000016.9:g.23546250G>C , CM000678.1:g.23546250G>C | GRCh37 |
| NC_000016.8:g.23453751G>C | NCBI36 |
| NG_027752.1:g.27447C>G | |
| NG_027752.2:g.27447C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.917C>G MANE Select | ENSP00000395196.2:p.Ser306Cys | |
| ENST00000674054.1:c.917C>G | ENSP00000501251.1:p.Ser306Cys | |
| ENST00000449606.5:c.917C>G | ENSP00000395196.1:p.Ser306Cys | |
| ENST00000562402.1:n.521C>G | ||
| ENST00000563232.1:c.917C>G | ENSP00000456218.1:p.Ser306Cys | |
| ENST00000563459.5:c.917C>G | ENSP00000456467.1:p.Ser306Cys | |
| ENST00000564501.5:c.917C>G | ENSP00000457107.1:p.Ser306Cys | |
| ENST00000564987.1:n.541C>G | ||
| ENST00000565344.1:n.290C>G | ||
| NM_001083614.1:c.917C>G | NP_001077083.1:p.Ser306Cys | |
| NM_001308211.1:c.917C>G | NP_001295140.1:p.Ser306Cys | |
| NR_003501.1:n.949C>G | ||
| XM_011545738.1:c.845C>G | XP_011544040.1:p.Ser282Cys | |
| XM_011545739.1:c.638C>G | XP_011544041.1:p.Ser213Cys | |
| XR_001751841.1:n.1239C>G | ||
| NM_001083614.2:c.917C>G MANE Select | NP_001077083.1:p.Ser306Cys | |
| NR_003501.2:n.924C>G |