Linked Data
ClinVar Variation Id:
10034
dbSNP Id:
rs137852480
gnomAD v4:
X-134473453-T-C
COSMIC:
COSM214134
PubMed:
PMID:2738157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134473453T>C , CM000685.2:g.134473453T>C | GRCh38 |
| NC_000023.10:g.133607483T>C , CM000685.1:g.133607483T>C | GRCh37 |
| NC_000023.9:g.133435149T>C | NCBI36 |
| NG_012329.1:g.18309T>C | |
| NG_012329.2:g.18309T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.122T>C MANE Select | ENSP00000298556.7:p.Leu41Pro | |
| ENST00000298556.7:c.122T>C | ENSP00000298556.7:p.Leu41Pro | |
| ENST00000462974.5:n.280T>C | ||
| ENST00000475720.1:n.80T>C | ||
| NM_000194.2:c.122T>C | NP_000185.1:p.Leu41Pro | |
| XM_011531328.1:c.140T>C | XP_011529630.1:p.Leu47Pro | |
| NM_000194.3:c.122T>C MANE Select | NP_000185.1:p.Leu41Pro |