Linked Data
dbSNP Id:
rs1592220673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912140A>C , CM000674.2:g.51912140A>C | GRCh38 |
| NC_000012.11:g.52305924A>C , CM000674.1:g.52305924A>C | GRCh37 |
| NC_000012.10:g.50592191A>C | NCBI36 |
| NG_009549.1:g.9723A>C , LRG_543:g.9723A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.-5-330A>C | ENSP00000455848.2:n.-5-330A>C | |
| ENST00000552678.2:c.-5-330A>C | ENSP00000457394.2:n.-5-330A>C | |
| ENST00000388922.9:c.-5-330A>C MANE Select | ENSP00000373574.4:n.-5-330A>C | |
| ENST00000388922.8:c.-5-330A>C | ENSP00000373574.4:n.-5-330A>C | |
| ENST00000551576.5:c.-5-330A>C | ENSP00000455848.1:n.-5-330A>C | |
| NM_000020.2:c.-5-330A>C , LRG_543t1:c.-5-330A>C | NP_000011.2:n.-5-330A>C | |
| XM_005269235.2:c.-5-330A>C | XP_005269292.1:n.-5-330A>C | |
| NM_000020.3:c.-5-330A>C MANE Select | NP_000011.2:n.-5-330A>C |