Linked Data
dbSNP Id:
rs1290683740
gnomAD v2:
4-17513600-G-C
gnomAD v3:
4-17511977-G-C
gnomAD v4:
4-17511977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511977G>C , CM000666.2:g.17511977G>C | GRCh38 |
| NC_000004.11:g.17513600G>C , CM000666.1:g.17513600G>C | GRCh37 |
| NC_000004.10:g.17122698G>C | NCBI36 |
| NG_008763.1:g.5258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281243.10:c.78C>G MANE Select | ENSP00000281243.5:p.Cys26Trp | |
| ENST00000281243.9:c.78C>G | ENSP00000281243.5:p.Cys26Trp | |
| ENST00000428702.6:c.78C>G | ENSP00000390944.2:p.Cys26Trp | |
| ENST00000505710.1:c.5C>G | ||
| ENST00000507439.5:c.78C>G | ENSP00000423227.1:p.Cys26Trp | |
| ENST00000508623.5:c.78C>G | ENSP00000426377.1:p.Cys26Trp | |
| ENST00000513615.5:c.78C>G | ENSP00000422759.1:p.Cys26Trp | |
| ENST00000514300.1:c.78C>G | ENSP00000426039.1:p.Cys26Trp | |
| NM_000320.2:c.78C>G | NP_000311.2:p.Cys26Trp | |
| NM_001306140.1:c.78C>G | NP_001293069.1:p.Cys26Trp | |
| XR_241677.1:n.241C>G | ||
| NR_156494.1:n.258C>G | ||
| NM_000320.3:c.78C>G MANE Select | NP_000311.2:p.Cys26Trp | |
| NM_001306140.2:c.78C>G | NP_001293069.1:p.Cys26Trp | |
| NR_156494.2:n.114C>G |