Linked Data
ClinVar Variation Id:
656073
dbSNP Id:
rs372698989
ExAC:
16:2096231 C / G
gnomAD v2:
16-2096231-C-G
gnomAD v3:
16-2046230-C-G
gnomAD v4:
16-2046230-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046230C>G , CM000678.2:g.2046230C>G | GRCh38 |
| NC_000016.9:g.2096231C>G , CM000678.1:g.2096231C>G | GRCh37 |
| NC_000016.8:g.2036232C>G | NCBI36 |
| NG_005895.1:g.1925C>G , LRG_487:g.1925C>G | |
| NG_008412.1:g.6637G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.252G>C MANE Select | ENSP00000498421.1:p.Trp84Cys | |
| ENST00000651583.1:c.207G>C | ENSP00000498821.1:p.Trp69Cys | |
| ENST00000219066.5:c.276G>C | ENSP00000219066.1:p.Trp92Cys | |
| ENST00000561841.1:c.172G>C | ||
| ENST00000566380.5:c.215G>C | ||
| ENST00000568513.5:c.173+50G>C | ||
| NM_002528.5:c.276G>C | NP_002519.1:p.Trp92Cys | |
| XM_011522505.1:c.276G>C | XP_011520807.1:p.Trp92Cys | |
| NM_001318193.1:c.276G>C | NP_001305122.1:p.Trp92Cys | |
| NM_001318194.1:c.24+50G>C | NP_001305123.1:n.24+50G>C | |
| NM_002528.6:c.276G>C | NP_002519.1:p.Trp92Cys | |
| XM_017023253.1:c.276G>C | XP_016878742.1:p.Trp92Cys | |
| NM_001318193.2:c.252G>C | NP_001305122.2:p.Trp84Cys | |
| NM_002528.7:c.252G>C MANE Select | NP_002519.2:p.Trp84Cys | |
| NM_001318194.2:c.24+50G>C | NP_001305123.1:n.24+50G>C |