Linked Data
ClinVar Variation Id:
30876
ClinVar RCV Id:
RCV000023861
dbSNP Id:
rs796051874
PubMed:
PMID:19250384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.195685T>A , CM000669.2:g.195685T>A | GRCh38 |
| NC_000007.13:g.195685T>A , CM000669.1:g.195685T>A | GRCh37 |
| NC_000007.12:g.290768T>A | NCBI36 |
| NG_033970.1:g.7717T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.737T>A MANE Select | ENSP00000322323.5:p.Ile246Asn | |
| ENST00000313766.5:c.737T>A | ENSP00000322323.5:p.Ile246Asn | |
| ENST00000471328.1:n.61T>A | ||
| ENST00000477004.1:n.218T>A | ||
| NM_020223.3:c.737T>A | NP_064608.2:p.Ile246Asn | |
| XM_011515457.1:c.737T>A | XP_011513759.1:p.Ile246Asn | |
| XR_242097.3:n.963T>A | ||
| XM_017012450.1:c.737T>A | XP_016867939.1:p.Ile246Asn | |
| XM_017012451.1:c.737T>A | XP_016867940.1:p.Ile246Asn | |
| XM_017012452.1:c.737T>A | XP_016867941.1:p.Ile246Asn | |
| XM_017012453.1:c.737T>A | XP_016867942.1:p.Ile246Asn | |
| XM_017012454.1:c.737T>A | XP_016867943.1:p.Ile246Asn | |
| XR_001744837.1:n.963T>A | ||
| NM_020223.4:c.737T>A MANE Select | NP_064608.2:p.Ile246Asn |