Linked Data
ClinVar Variation Id:
161545
ClinVar RCV Id:
RCV000149080
dbSNP Id:
rs193921024
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160832565C>T , CM000663.2:g.160832565C>T | GRCh38 |
| NC_000001.10:g.160802355C>T , CM000663.1:g.160802355C>T | GRCh37 |
| NC_000001.9:g.159068979C>T | NCBI36 |
| NG_015991.1:g.35338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368034.9:c.971G>A MANE Select | ENSP00000357013.4:p.Arg324Lys | |
| ENST00000322302.7:c.695G>A | ENSP00000313619.7:p.Arg232Lys | |
| ENST00000368033.7:c.986G>A | ENSP00000357012.3:p.Arg329Lys | |
| ENST00000368034.8:c.971G>A | ENSP00000357013.4:p.Arg324Lys | |
| ENST00000481677.1:n.491G>A | ||
| ENST00000492063.5:c.*125G>A | ENSP00000432636.1:n.*125G>A | |
| NM_001166663.1:c.986G>A | NP_001160135.1:p.Arg329Lys | |
| NM_001166664.1:c.695G>A | NP_001160136.1:p.Arg232Lys | |
| NM_016382.3:c.971G>A | NP_057466.1:p.Arg324Lys | |
| XM_011509620.1:c.926G>A | XP_011507922.1:p.Arg309Lys | |
| XM_011509623.1:c.377G>A | XP_011507925.1:p.Arg126Lys | |
| XM_011509623.3:c.377G>A | XP_011507925.1:p.Arg126Lys | |
| XR_001737229.1:n.1459G>A | ||
| NM_016382.4:c.971G>A MANE Select | NP_057466.1:p.Arg324Lys | |
| NM_001166663.2:c.986G>A | NP_001160135.1:p.Arg329Lys | |
| NM_001166664.2:c.695G>A | NP_001160136.1:p.Arg232Lys |