Linked Data
dbSNP Id:
rs186076104
gnomAD v2:
4-69512626-T-A
gnomAD v3:
4-68646908-T-A
gnomAD v4:
4-68646908-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646908T>A , CM000666.2:g.68646908T>A | GRCh38 |
| NC_000004.11:g.69512626T>A , CM000666.1:g.69512626T>A | GRCh37 |
| NC_000004.10:g.69195221T>A | NCBI36 |
| NG_052676.1:g.28869A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*196A>T MANE Select | ENSP00000341045.5:n.*196A>T | |
| ENST00000338206.5:c.*196A>T | ENSP00000341045.5:n.*196A>T | |
| ENST00000616841.4:c.1732+57A>T | ENSP00000482004.1:n.1732+57A>T | |
| NM_001076.3:c.*196A>T | NP_001067.2:n.*196A>T | |
| NM_001076.4:c.*196A>T MANE Select | NP_001067.2:n.*196A>T |