Linked Data
dbSNP Id:
rs750275310
ExAC:
2:233398976 T / G
gnomAD v2:
2-233398976-T-G
gnomAD v4:
2-232534266-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534266T>G , CM000664.2:g.232534266T>G | GRCh38 |
| NC_000002.11:g.233398976T>G , CM000664.1:g.233398976T>G | GRCh37 |
| NC_000002.10:g.233107220T>G | NCBI36 |
| NG_008028.1:g.13055T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1295T>G MANE Select | ENSP00000258385.3:p.Phe432Cys | |
| ENST00000258385.7:c.1295T>G | ENSP00000258385.3:p.Phe432Cys | |
| ENST00000441621.6:c.*477T>G | ENSP00000408819.2:n.*477T>G | |
| ENST00000446616.1:c.*936T>G | ENSP00000410801.1:n.*936T>G | |
| ENST00000543200.5:c.1250T>G | ENSP00000438380.1:p.Phe417Cys | |
| NM_000751.2:c.1295T>G | NP_000742.1:p.Phe432Cys | |
| NM_001256657.1:c.1250T>G | NP_001243586.1:p.Phe417Cys | |
| NM_001311195.1:c.713T>G | NP_001298124.1:p.Phe238Cys | |
| NM_001311196.1:c.992T>G | NP_001298125.1:p.Phe331Cys | |
| NR_046333.1:c.-4294966256T>G | ||
| NR_046334.1:c.-4294965977T>G | ||
| XM_011510524.1:c.914T>G | XP_011508826.1:p.Phe305Cys | |
| XM_011510524.2:c.914T>G | XP_011508826.1:p.Phe305Cys | |
| NM_000751.3:c.1295T>G MANE Select | NP_000742.1:p.Phe432Cys | |
| NM_001311195.2:c.713T>G | NP_001298124.1:p.Phe238Cys | |
| NM_001311196.2:c.992T>G | NP_001298125.1:p.Phe331Cys | |
| NM_001256657.2:c.1250T>G | NP_001243586.1:p.Phe417Cys |