Linked Data
ClinVar Variation Id:
441136
ClinVar RCV Id:
RCV000509314
dbSNP Id:
rs757537568
gnomAD v2:
9-2717887-A-C
gnomAD v3:
9-2717887-A-C
gnomAD v4:
9-2717887-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717887A>C , CM000671.2:g.2717887A>C | GRCh38 |
| NC_000009.11:g.2717887A>C , CM000671.1:g.2717887A>C | GRCh37 |
| NC_000009.10:g.2707887A>C | NCBI36 |
| NG_012181.1:g.5362A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.148A>C MANE Select | ENSP00000371514.3:p.Asn50His | |
| ENST00000382082.3:c.148A>C | ENSP00000371514.3:p.Asn50His | |
| NM_133497.3:c.148A>C | NP_598004.1:p.Asn50His | |
| XR_929202.1:n.649A>C | ||
| XR_929203.1:n.649A>C | ||
| NM_133497.4:c.148A>C MANE Select | NP_598004.1:p.Asn50His |