Linked Data
ClinVar Variation Id:
161511
ClinVar RCV Id:
RCV000149045
dbSNP Id:
rs193921140
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33028251G>T , CM000679.2:g.33028251G>T | GRCh38 |
| NC_000017.10:g.31355269G>T , CM000679.1:g.31355269G>T | GRCh37 |
| NC_000017.9:g.28379382G>T | NCBI36 |
| NG_029763.1:g.1133557C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225823.7:c.1129C>A MANE Select | ENSP00000225823.2:p.His377Asn | |
| ENST00000225823.6:c.1129C>A | ENSP00000225823.2:p.His377Asn | |
| ENST00000359872.6:c.976C>A | ENSP00000352934.6:p.His326Asn | |
| ENST00000448983.1:n.534C>A | ||
| NM_001094.4:c.976C>A | NP_001085.2:p.His326Asn | |
| NM_183377.1:c.1129C>A | NP_899233.1:p.His377Asn | |
| NM_001094.5:c.976C>A | NP_001085.2:p.His326Asn | |
| NM_183377.2:c.1129C>A MANE Select | NP_899233.1:p.His377Asn |