Linked Data
ClinVar Variation Id:
12194
ClinVar RCV Id:
RCV000012977
dbSNP Id:
rs121964897
PubMed:
PMID:18252794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422523C>T , CM000663.2:g.119422523C>T | GRCh38 |
| NC_000001.10:g.119965146C>T , CM000663.1:g.119965146C>T | GRCh37 |
| NC_000001.9:g.119766669C>T | NCBI36 |
| NG_013349.1:g.12593C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369416.4:c.1022C>T MANE Select | ENSP00000358424.3:p.Pro341Leu | |
| ENST00000369416.3:c.1022C>T | ENSP00000358424.3:p.Pro341Leu | |
| ENST00000543831.5:c.1022C>T | ENSP00000445122.1:p.Pro341Leu | |
| NM_000198.3:c.1022C>T | NP_000189.1:p.Pro341Leu | |
| NM_001166120.1:c.1022C>T | NP_001159592.1:p.Pro341Leu | |
| NM_000198.4:c.1022C>T MANE Select | NP_000189.1:p.Pro341Leu | |
| NM_001166120.2:c.1022C>T | NP_001159592.1:p.Pro341Leu |