Linked Data
dbSNP Id:
rs755841990
ExAC:
3:93619762 A / G
gnomAD v2:
3-93619762-A-G
gnomAD v4:
3-93900918-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900918A>G , CM000665.2:g.93900918A>G | GRCh38 |
| NC_000003.11:g.93619762A>G , CM000665.1:g.93619762A>G | GRCh37 |
| NC_000003.10:g.95102452A>G | NCBI36 |
| NG_009813.1:g.78173T>C , LRG_572:g.78173T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.613T>C | ENSP00000330021.7:p.Cys205Arg | |
| ENST00000394236.9:c.613T>C MANE Select | ENSP00000377783.3:p.Cys205Arg | |
| ENST00000407433.6:c.568T>C | ENSP00000385794.2:p.Cys190Arg | |
| ENST00000647936.1:c.613T>C | ENSP00000496822.1:p.Cys205Arg | |
| ENST00000648381.1:n.781T>C | ||
| ENST00000648853.1:c.571T>C | ENSP00000497262.1:p.Cys191Arg | |
| ENST00000649103.1:c.712T>C | ENSP00000497962.1:n.712T>C | |
| ENST00000650591.1:c.709T>C | ENSP00000497376.1:p.Cys237Arg | |
| ENST00000394236.7:c.613T>C | ENSP00000377783.3:p.Cys205Arg | |
| ENST00000407433.5:c.220T>C | ENSP00000385794.1:p.Cys74Arg | |
| NM_000313.3:c.613T>C , LRG_572t1:c.613T>C | NP_000304.2:p.Cys205Arg | |
| NM_001314077.1:c.709T>C , LRG_572t2:c.709T>C | NP_001301006.1:p.Cys237Arg | |
| NM_000313.4:c.613T>C MANE Select | NP_000304.2:p.Cys205Arg | |
| NM_001314077.2:c.709T>C | NP_001301006.1:p.Cys237Arg |