Linked Data
ClinVar Variation Id:
5416
ClinVar RCV Id:
RCV000005749
dbSNP Id:
rs104893672
gnomAD v4:
2-189565572-T-A
PubMed:
PMID:16351644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565572T>A , CM000664.2:g.189565572T>A | GRCh38 |
| NC_000002.11:g.190430298T>A , CM000664.1:g.190430298T>A | GRCh37 |
| NC_000002.10:g.190138543T>A | NCBI36 |
| NG_009027.1:g.20240A>T , LRG_837:g.20240A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.542A>T MANE Select | ENSP00000261024.3:p.Asp181Val | |
| ENST00000261024.6:c.542A>T | ENSP00000261024.2:p.Asp181Val | |
| ENST00000427241.5:c.542A>T | ENSP00000390005.1:p.Asp181Val | |
| NM_014585.5:c.542A>T , LRG_837t1:c.542A>T | NP_055400.1:p.Asp181Val | |
| XM_005246505.1:c.422A>T | XP_005246562.1:p.Asp141Val | |
| XM_005246505.2:c.422A>T | XP_005246562.1:p.Asp141Val | |
| XM_017003938.2:c.422A>T | XP_016859427.1:p.Asp141Val | |
| NM_014585.6:c.542A>T MANE Select | NP_055400.1:p.Asp181Val |