Linked Data
ClinVar Variation Id:
4615
ClinVar RCV Id:
RCV000004878
dbSNP Id:
rs121908315
gnomAD v4:
19-3653454-C-T
PubMed:
PMID:17701898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3653454C>T , CM000681.2:g.3653454C>T | GRCh38 |
| NC_000019.9:g.3653452C>T , CM000681.1:g.3653452C>T | GRCh37 |
| NC_000019.8:g.3604452C>T | NCBI36 |
| NG_012161.1:g.51994G>A | |
| NG_012161.2:g.51994G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335312.8:c.757G>A MANE Select | ENSP00000335333.3:p.Asp253Asn | |
| ENST00000679828.1:c.*296G>A | ENSP00000506175.1:n.*296G>A | |
| ENST00000679885.1:c.757G>A | ENSP00000504894.1:p.Asp253Asn | |
| ENST00000335312.7:c.757G>A | ENSP00000335333.2:p.Asp253Asn | |
| ENST00000537021.1:c.757G>A | ENSP00000444779.1:p.Asp253Asn | |
| ENST00000539785.5:c.757G>A | ENSP00000445992.1:p.Asp253Asn | |
| ENST00000587482.1:n.808G>A | ||
| ENST00000589578.5:c.757G>A | ENSP00000466363.1:p.Asp253Asn | |
| NM_001195733.1:c.757G>A | NP_001182662.1:p.Asp253Asn | |
| NM_001300849.1:c.757G>A | NP_001287778.1:p.Asp253Asn | |
| NM_012398.2:c.757G>A | NP_036530.1:p.Asp253Asn | |
| XM_011527845.1:c.757G>A | XP_011526147.1:p.Asp253Asn | |
| XM_011527846.1:c.757G>A | XP_011526148.1:p.Asp253Asn | |
| XM_011527847.1:c.757G>A | XP_011526149.1:p.Asp253Asn | |
| XM_011527848.1:c.757G>A | XP_011526150.1:p.Asp253Asn | |
| XM_011527849.1:c.757G>A | XP_011526151.1:p.Asp253Asn | |
| XM_011527850.1:c.622G>A | XP_011526152.1:p.Asp208Asn | |
| XM_011527850.2:c.622G>A | XP_011526152.1:p.Asp208Asn | |
| XM_017026540.2:c.757G>A | XP_016882029.1:p.Asp253Asn | |
| NM_001195733.2:c.757G>A | NP_001182662.1:p.Asp253Asn | |
| NM_001300849.2:c.757G>A | NP_001287778.1:p.Asp253Asn | |
| NM_012398.3:c.757G>A MANE Select | NP_036530.1:p.Asp253Asn |