Linked Data
ClinVar Variation Id:
56508
ClinVar RCV Id:
RCV000049921
dbSNP Id:
rs386833946
PubMed:
PMID:9915943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35850975A>T , CM000681.2:g.35850975A>T | GRCh38 |
| NC_000019.9:g.36341877A>T , CM000681.1:g.36341877A>T | GRCh37 |
| NC_000019.8:g.41033717A>T | NCBI36 |
| NG_013356.2:g.23313T>A , LRG_693:g.23313T>A | |
| NG_051206.1:g.4341A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.512T>A MANE Select | ENSP00000368190.4:p.Ile171Asn | |
| ENST00000353632.6:c.512T>A | ENSP00000343634.5:p.Ile171Asn | |
| ENST00000378910.9:c.512T>A | ENSP00000368190.4:p.Ile171Asn | |
| NM_004646.3:c.512T>A , LRG_693t1:c.512T>A | NP_004637.1:p.Ile171Asn | |
| NM_004646.4:c.512T>A MANE Select | NP_004637.1:p.Ile171Asn |