Linked Data
dbSNP Id:
rs766584520
gnomAD v2:
4-69512675-C-A
gnomAD v3:
4-68646957-C-A
gnomAD v4:
4-68646957-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646957C>A , CM000666.2:g.68646957C>A | GRCh38 |
| NC_000004.11:g.69512675C>A , CM000666.1:g.69512675C>A | GRCh37 |
| NC_000004.10:g.69195270C>A | NCBI36 |
| NG_052676.1:g.28820G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*147G>T MANE Select | ENSP00000341045.5:n.*147G>T | |
| ENST00000338206.5:c.*147G>T | ENSP00000341045.5:n.*147G>T | |
| ENST00000616841.4:c.1732+8G>T | ENSP00000482004.1:n.1732+8G>T | |
| NM_001076.3:c.*147G>T | NP_001067.2:n.*147G>T | |
| NM_001076.4:c.*147G>T MANE Select | NP_001067.2:n.*147G>T |