Linked Data
ClinVar Variation Id:
161626
ClinVar RCV Id:
RCV000149162
dbSNP Id:
rs193920742
COSMIC:
COSM1178603
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.9505052T>G , CM000679.2:g.9505052T>G | GRCh38 |
| NC_000017.10:g.9408369T>G , CM000679.1:g.9408369T>G | GRCh37 |
| NC_000017.9:g.9349094T>G | NCBI36 |
| NG_047110.1:g.75907A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306357.9:c.434A>C MANE Select | ENSP00000305255.2:p.Gln145Pro | |
| ENST00000306357.8:c.434A>C | ENSP00000305255.2:p.Gln145Pro | |
| ENST00000574431.5:c.101A>C | ENSP00000467749.1:p.Gln34Pro | |
| ENST00000575294.6:c.118-13131A>C | ENSP00000468093.1:n.118-13131A>C | |
| ENST00000575858.5:c.*93A>C | ENSP00000460355.1:n.*93A>C | |
| NM_004853.2:c.434A>C | NP_004844.1:p.Gln145Pro | |
| NR_033656.1:n.378A>C | ||
| XM_011524079.1:c.269A>C | XP_011522381.1:p.Gln90Pro | |
| XR_934120.1:n.520A>C | ||
| XM_011524079.2:c.269A>C | XP_011522381.1:p.Gln90Pro | |
| XR_934120.2:n.520A>C | ||
| NM_004853.3:c.434A>C MANE Select | NP_004844.1:p.Gln145Pro | |
| NR_033656.2:n.240A>C |