Linked Data
ClinVar Variation Id:
6826
ClinVar RCV Id:
RCV000007228
dbSNP Id:
rs121908255
PubMed:
PMID:19361780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.79783736C>T , CM000679.2:g.79783736C>T | GRCh38 |
| NC_000017.10:g.77757535C>T , CM000679.1:g.77757535C>T | GRCh37 |
| NC_000017.9:g.75372130C>T | NCBI36 |
| NG_016986.1:g.10559C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310942.9:c.293C>T MANE Select | ENSP00000308750.4:p.Pro98Leu | |
| ENST00000310942.8:c.293C>T | ENSP00000308750.4:p.Pro98Leu | |
| NM_005189.2:c.293C>T | NP_005180.1:p.Pro98Leu | |
| XM_011525382.1:c.293C>T | XP_011523684.1:p.Pro98Leu | |
| XM_011525383.1:c.38C>T | XP_011523685.1:p.Pro13Leu | |
| XM_011525383.2:c.38C>T | XP_011523685.1:p.Pro13Leu | |
| NM_005189.3:c.293C>T MANE Select | NP_005180.1:p.Pro98Leu |