Linked Data
dbSNP Id:
rs750236433
ExAC:
4:100048463 C / G
gnomAD v2:
4-100048463-C-G
gnomAD v4:
4-99127312-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99127312C>G , CM000666.2:g.99127312C>G | GRCh38 |
| NC_000004.11:g.100048463C>G , CM000666.1:g.100048463C>G | GRCh37 |
| NC_000004.10:g.100267486C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265512.12:c.876G>C MANE Select | ENSP00000265512.7:p.Trp292Cys | |
| ENST00000265512.11:c.876G>C | ENSP00000265512.7:p.Trp292Cys | |
| ENST00000505590.5:c.933G>C | ENSP00000425416.1:p.Trp311Cys | |
| ENST00000506705.5:c.*850G>C | ENSP00000426667.1:n.*850G>C | |
| ENST00000508393.5:c.933G>C | ENSP00000424630.1:p.Trp311Cys | |
| ENST00000509471.5:c.334-580G>C | ENSP00000424583.1:n.334-580G>C | |
| ENST00000629236.2:c.876G>C | ENSP00000486450.1:p.Trp292Cys | |
| NM_000670.3:c.876G>C | NP_000661.2:p.Trp292Cys | |
| NM_000670.4:c.876G>C | NP_000661.2:p.Trp292Cys | |
| NM_001306171.1:c.933G>C | NP_001293100.1:p.Trp311Cys | |
| NM_001306172.1:c.933G>C | NP_001293101.1:p.Trp311Cys | |
| NR_037884.1:n.429-6243C>G | ||
| XR_938685.1:n.1104G>C | ||
| XR_938686.1:n.1095G>C | ||
| XR_938687.1:n.968G>C | ||
| NM_000670.5:c.876G>C MANE Select | NP_000661.2:p.Trp292Cys | |
| NM_001306171.2:c.933G>C | NP_001293100.1:p.Trp311Cys | |
| NM_001306172.2:c.933G>C | NP_001293101.1:p.Trp311Cys |