Linked Data
ClinVar Variation Id:
1026339
dbSNP Id:
rs375347841
ExAC:
16:2096145 G / C
gnomAD v2:
16-2096145-G-C
gnomAD v3:
16-2046144-G-C
gnomAD v4:
16-2046144-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046144G>C , CM000678.2:g.2046144G>C | GRCh38 |
| NC_000016.9:g.2096145G>C , CM000678.1:g.2096145G>C | GRCh37 |
| NC_000016.8:g.2036146G>C | NCBI36 |
| NG_005895.1:g.1839G>C , LRG_487:g.1839G>C | |
| NG_008412.1:g.6723C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651522.1:c.47C>G | ENSP00000498290.1:p.Ser16Cys | |
| ENST00000651570.2:c.338C>G MANE Select | ENSP00000498421.1:p.Ser113Cys | |
| ENST00000651583.1:c.293C>G | ENSP00000498821.1:p.Ser98Cys | |
| ENST00000219066.5:c.362C>G | ENSP00000219066.1:p.Ser121Cys | |
| ENST00000561841.1:c.258C>G | ||
| ENST00000562120.1:n.71C>G | ||
| ENST00000566380.5:c.301C>G | ||
| ENST00000568513.5:c.173+136C>G | ||
| NM_002528.5:c.362C>G | NP_002519.1:p.Ser121Cys | |
| XM_011522505.1:c.362C>G | XP_011520807.1:p.Ser121Cys | |
| NM_001318193.1:c.362C>G | NP_001305122.1:p.Ser121Cys | |
| NM_001318194.1:c.24+136C>G | NP_001305123.1:n.24+136C>G | |
| NM_002528.6:c.362C>G | NP_002519.1:p.Ser121Cys | |
| XM_017023253.1:c.362C>G | XP_016878742.1:p.Ser121Cys | |
| NM_001318193.2:c.338C>G | NP_001305122.2:p.Ser113Cys | |
| NM_002528.7:c.338C>G MANE Select | NP_002519.2:p.Ser113Cys | |
| NM_001318194.2:c.24+136C>G | NP_001305123.1:n.24+136C>G |