Linked Data
ClinVar Variation Id:
289650
dbSNP Id:
rs781760379
gnomAD v2:
13-23777991-T-C
gnomAD v4:
13-23203852-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23203852T>C , CM000675.2:g.23203852T>C | GRCh38 |
| NC_000013.10:g.23777991T>C , CM000675.1:g.23777991T>C | GRCh37 |
| NC_000013.9:g.22675991T>C | NCBI36 |
| NG_008759.1:g.27932T>C , LRG_207:g.27932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.158T>C MANE Select | ENSP00000218867.3:p.Leu53Pro | |
| ENST00000218867.3:c.158T>C | ENSP00000218867.3:p.Leu53Pro | |
| NM_000231.2:c.158T>C , LRG_207t1:c.158T>C | NP_000222.1:p.Leu53Pro | |
| XM_005266505.2:c.158T>C | XP_005266562.1:p.Leu53Pro | |
| XM_006719861.2:c.212T>C | XP_006719924.1:p.Leu71Pro | |
| XM_006719861.3:c.212T>C | XP_006719924.1:p.Leu71Pro | |
| XM_024449397.1:c.158T>C | XP_024305165.1:p.Leu53Pro | |
| NM_000231.3:c.158T>C MANE Select | NP_000222.2:p.Leu53Pro | |
| NM_001378244.1:c.212T>C | NP_001365173.1:p.Leu71Pro | |
| NM_001378245.1:c.158T>C | NP_001365174.1:p.Leu53Pro | |
| NM_001378246.1:c.158T>C | NP_001365175.1:p.Leu53Pro |