Linked Data
dbSNP Id:
rs1345590086
gnomAD v2:
4-69512502-C-T
gnomAD v3:
4-68646784-C-T
gnomAD v4:
4-68646784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646784C>T , CM000666.2:g.68646784C>T | GRCh38 |
| NC_000004.11:g.69512502C>T , CM000666.1:g.69512502C>T | GRCh37 |
| NC_000004.10:g.69195097C>T | NCBI36 |
| NG_052676.1:g.28993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*320G>A MANE Select | ENSP00000341045.5:n.*320G>A | |
| ENST00000338206.5:c.*320G>A | ENSP00000341045.5:n.*320G>A | |
| ENST00000616841.4:c.1732+181G>A | ENSP00000482004.1:n.1732+181G>A | |
| NM_001076.3:c.*320G>A | NP_001067.2:n.*320G>A | |
| NM_001076.4:c.*320G>A MANE Select | NP_001067.2:n.*320G>A |