Linked Data
ClinVar Variation Id:
574688
ClinVar RCV Id:
RCV000696689
dbSNP Id:
rs1561556166
gnomAD v3:
5-151851413-C-T
gnomAD v4:
5-151851413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851413C>T , CM000667.2:g.151851413C>T | GRCh38 |
| NC_000005.9:g.151230974C>T , CM000667.1:g.151230974C>T | GRCh37 |
| NC_000005.8:g.151211167C>T | NCBI36 |
| NG_011764.1:g.78424G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.889G>A MANE Select | ENSP00000274576.5:p.Gly297Ser | |
| ENST00000274576.8:c.889G>A | ENSP00000274576.4:p.Gly297Ser | |
| ENST00000455880.2:c.889G>A | ENSP00000411593.2:p.Gly297Ser | |
| ENST00000462581.6:c.*647G>A | ENSP00000430595.1:n.*647G>A | |
| ENST00000471351.2:n.1172G>A | ||
| NM_000171.3:c.889G>A | NP_000162.2:p.Gly297Ser | |
| NM_001146040.1:c.889G>A | NP_001139512.1:p.Gly297Ser | |
| NM_001292000.1:c.640G>A | NP_001278929.1:p.Gly214Ser | |
| XM_005268412.2:c.889G>A | XP_005268469.1:p.Gly297Ser | |
| NM_000171.4:c.889G>A MANE Select | NP_000162.2:p.Gly297Ser | |
| NM_001146040.2:c.889G>A | NP_001139512.1:p.Gly297Ser | |
| NM_001292000.2:c.640G>A | NP_001278929.1:p.Gly214Ser |