Linked Data
dbSNP Id:
rs1948141456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312573A>T , CM000673.2:g.118312573A>T | GRCh38 |
| NC_000011.9:g.118183288A>T , CM000673.1:g.118183288A>T | GRCh37 |
| NC_000011.8:g.117688498A>T | NCBI36 |
| NG_007383.1:g.12994A>T , LRG_38:g.12994A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.104-45A>T MANE Select | ENSP00000354566.4:n.104-45A>T | |
| ENST00000361763.8:c.104-45A>T | ENSP00000354566.4:n.104-45A>T | |
| ENST00000526146.5:n.605A>T | ||
| ENST00000528435.5:n.612A>T | ||
| ENST00000528600.1:c.86-45A>T | ENSP00000433975.1:n.86-45A>T | |
| ENST00000529713.5:n.210-45A>T | ||
| ENST00000531913.1:n.430A>T | ||
| NM_000733.3:c.104-45A>T , LRG_38t1:c.104-45A>T | NP_000724.1:n.104-45A>T | |
| NM_000733.4:c.104-45A>T MANE Select | NP_000724.1:n.104-45A>T |