Linked Data
ClinVar Variation Id:
5711
ClinVar RCV Id:
RCV000006065
dbSNP Id:
rs137853144
PubMed:
PMID:17436252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18594357T>A , CM000681.2:g.18594357T>A | GRCh38 |
| NC_000019.9:g.18705167T>A , CM000681.1:g.18705167T>A | GRCh37 |
| NC_000019.8:g.18566167T>A | NCBI36 |
| NG_013370.1:g.17494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.1102A>T | ENSP00000506849.1:p.Lys368Ter | |
| ENST00000392386.8:c.1102A>T MANE Select | ENSP00000376188.2:p.Lys368Ter | |
| ENST00000392386.7:c.1102A>T | ENSP00000376188.2:p.Lys368Ter | |
| ENST00000594325.1:n.79A>T | ||
| NM_004750.4:c.1102A>T | NP_004741.1:p.Lys368Ter | |
| XM_011528422.1:c.1036A>T | XP_011526724.1:p.Lys346Ter | |
| XM_011528423.1:c.1102A>T | XP_011526725.1:p.Lys368Ter | |
| XM_011528424.1:c.1036A>T | XP_011526726.1:p.Lys346Ter | |
| XM_011528422.2:c.1036A>T | XP_011526724.1:p.Lys346Ter | |
| XM_011528423.2:c.1102A>T | XP_011526725.1:p.Lys368Ter | |
| XM_011528424.3:c.1036A>T | XP_011526726.1:p.Lys346Ter | |
| NM_004750.5:c.1102A>T MANE Select | NP_004741.1:p.Lys368Ter |