Linked Data
ClinVar Variation Id:
68465
ClinVar RCV Id:
RCV000059334
dbSNP Id:
rs397515627
gnomAD v4:
1-147908521-C-T
PubMed:
PMID:17724170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908521C>T , CM000663.2:g.147908521C>T | GRCh38 |
| NC_000001.10:g.147380648C>T , CM000663.1:g.147380648C>T | GRCh37 |
| NC_000001.9:g.145847272C>T | NCBI36 |
| NG_016242.1:g.10703C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369235.2:c.566C>T MANE Select | ENSP00000358238.1:p.Pro189Leu | |
| ENST00000369235.1:c.566C>T | ENSP00000358238.1:p.Pro189Leu | |
| NM_005267.4:c.566C>T | NP_005258.2:p.Pro189Leu | |
| XM_011509416.1:c.566C>T | XP_011507718.1:p.Pro189Leu | |
| XM_011509417.1:c.566C>T | XP_011507719.1:p.Pro189Leu | |
| XM_011509417.2:c.566C>T | XP_011507719.1:p.Pro189Leu | |
| XR_002956281.1:n.1481C>T | ||
| NM_005267.5:c.566C>T MANE Select | NP_005258.2:p.Pro189Leu |