Linked Data
dbSNP Id:
rs1294112111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043903G>A , CM000672.2:g.114043903G>A | GRCh38 |
| NC_000010.10:g.115803662G>A , CM000672.1:g.115803662G>A | GRCh37 |
| NC_000010.9:g.115793652G>A | NCBI36 |
| NG_012187.1:g.4857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-230G>A MANE Select | ENSP00000358301.2:n.-230G>A | |
| NM_000684.3:c.-230G>A MANE Select | NP_000675.1:n.-230G>A |