Linked Data
ClinVar Variation Id:
2273799
ClinVar RCV Id:
RCV002826692
dbSNP Id:
rs892678595
gnomAD v4:
1-197143071-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197143071T>G , CM000663.2:g.197143071T>G | GRCh38 |
| NC_000001.10:g.197112201T>G , CM000663.1:g.197112201T>G | GRCh37 |
| NC_000001.9:g.195378824T>G | NCBI36 |
| NG_015867.1:g.8624A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.1181A>C MANE Select | ENSP00000356379.4:p.Asn394Thr | |
| ENST00000679766.1:n.1398A>C | ||
| ENST00000680265.1:c.1181A>C | ENSP00000505384.1:p.Asn394Thr | |
| ENST00000680710.1:c.1181A>C | ENSP00000506676.1:p.Asn394Thr | |
| ENST00000681879.1:c.1181A>C | ENSP00000505363.1:p.Asn394Thr | |
| ENST00000294732.11:c.1181A>C | ENSP00000294732.7:p.Asn394Thr | |
| ENST00000367409.8:c.1181A>C | ENSP00000356379.4:p.Asn394Thr | |
| ENST00000612785.1:c.561+620A>C | ENSP00000479244.1:n.561+620A>C | |
| NM_001206846.1:c.1181A>C | NP_001193775.1:p.Asn394Thr | |
| NM_018136.4:c.1181A>C | NP_060606.3:p.Asn394Thr | |
| NM_018136.5:c.1181A>C MANE Select | NP_060606.3:p.Asn394Thr | |
| NM_001206846.2:c.1181A>C | NP_001193775.1:p.Asn394Thr |