Linked Data
ClinVar Variation Id:
161832
ClinVar RCV Id:
RCV000149368
dbSNP Id:
rs193921007
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57753704A>C , CM000681.2:g.57753704A>C | GRCh38 |
| NC_000019.9:g.58265072A>C , CM000681.1:g.58265072A>C | GRCh37 |
| NC_000019.8:g.62956884A>C | NCBI36 |
| NG_052796.1:g.11909A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317178.10:c.574A>C MANE Select | ENSP00000321812.5:p.Asn192His | |
| ENST00000317178.9:c.574A>C | ENSP00000321812.5:p.Asn192His | |
| ENST00000451849.1:c.108+2793A>C | ||
| NM_173632.3:c.574A>C | NP_775903.3:p.Asn192His | |
| NM_001348007.1:c.249+325A>C | NP_001334936.1:n.249+325A>C | |
| NR_145326.1:n.837A>C | ||
| NR_145327.1:n.837A>C | ||
| NR_145328.1:n.423+2793A>C | ||
| NM_173632.4:c.574A>C MANE Select | NP_775903.3:p.Asn192His | |
| NM_001348007.2:c.249+325A>C | NP_001334936.1:n.249+325A>C | |
| NR_145326.2:n.818A>C | ||
| NR_145327.2:n.818A>C | ||
| NR_145328.2:n.404+2793A>C |