Linked Data
dbSNP Id:
rs1468400400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850013G>A , CM000672.2:g.94850013G>A | GRCh38 |
| NC_000010.10:g.96609770G>A , CM000672.1:g.96609770G>A | GRCh37 |
| NC_000010.9:g.96599760G>A | NCBI36 |
| NG_008384.2:g.92308G>A | |
| NG_008384.3:g.92333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1246G>A MANE Select | ENSP00000360372.3:p.Gly416Ser | |
| ENST00000645461.1:n.2157G>A | ||
| ENST00000371321.7:c.1246G>A | ENSP00000360372.3:p.Gly416Ser | |
| ENST00000464755.1:c.2009G>A | ENSP00000483243.1:n.2009G>A | |
| NM_000769.2:c.1246G>A | NP_000760.1:p.Gly416Ser | |
| NM_000769.4:c.1246G>A MANE Select | NP_000760.1:p.Gly416Ser |