Linked Data
ClinVar Variation Id:
215139
dbSNP Id:
rs139301835
ExAC:
6:158579375 G / C
gnomAD v2:
6-158579375-G-C
gnomAD v3:
6-158158343-G-C
gnomAD v4:
6-158158343-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158158343G>C , CM000668.2:g.158158343G>C | GRCh38 |
| NC_000006.11:g.158579375G>C , CM000668.1:g.158579375G>C | GRCh37 |
| NC_000006.10:g.158499363G>C | NCBI36 |
| NG_032889.1:g.14938C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000607071.6:c.21C>G | ENSP00000475855.1:p.Cys7Trp | |
| ENST00000642244.1:c.21C>G | ENSP00000493554.1:p.Cys7Trp | |
| ENST00000642903.1:c.21C>G | ENSP00000493559.1:p.Cys7Trp | |
| ENST00000644972.1:c.21C>G | ENSP00000496451.1:p.Cys7Trp | |
| ENST00000645077.1:c.21C>G | ENSP00000496113.1:p.Cys7Trp | |
| ENST00000645172.1:c.21C>G | ENSP00000495367.1:p.Cys7Trp | |
| ENST00000646190.1:n.1289C>G | ||
| ENST00000646208.1:c.21C>G | ENSP00000493723.1:p.Cys7Trp | |
| ENST00000646410.1:c.21C>G | ENSP00000494205.1:p.Cys7Trp | |
| ENST00000646562.1:c.21C>G | ENSP00000496087.1:p.Cys7Trp | |
| ENST00000647468.2:c.21C>G MANE Select | ENSP00000496731.1:p.Cys7Trp | |
| ENST00000648111.1:c.21C>G | ENSP00000497275.1:p.Cys7Trp | |
| ENST00000367101.5:c.21C>G | ENSP00000356068.1:p.Cys7Trp | |
| ENST00000367104.7:c.21C>G | ENSP00000356071.3:p.Cys7Trp | |
| ENST00000606965.5:c.21C>G | ENSP00000475808.1:p.Cys7Trp | |
| ENST00000607000.1:c.21C>G | ENSP00000475788.1:p.Cys7Trp | |
| ENST00000607071.5:c.21C>G | ENSP00000475855.1:p.Cys7Trp | |
| ENST00000607742.5:c.21C>G | ENSP00000475523.1:p.Cys7Trp | |
| NM_032861.3:c.21C>G | NP_116250.3:p.Cys7Trp | |
| NR_073096.1:n.163C>G | ||
| XM_006715586.1:c.-153C>G | XP_006715649.1:n.-153C>G | |
| XM_011536196.1:c.37C>G | XP_011534498.1:p.Arg13Gly | |
| XM_011536197.1:c.21C>G | XP_011534499.1:p.Cys7Trp | |
| XR_942606.1:n.22C>G | ||
| XM_006715586.3:c.-153C>G | XP_006715649.1:n.-153C>G | |
| XM_011536196.3:c.37C>G | XP_011534498.1:p.Arg13Gly | |
| XM_024446573.1:c.21C>G | XP_024302341.1:p.Cys7Trp | |
| XR_001743697.2:n.139C>G | ||
| XR_942606.2:n.153C>G | ||
| NM_032861.4:c.21C>G MANE Select | NP_116250.3:p.Cys7Trp | |
| NR_073096.2:n.145C>G |