Linked Data
ClinVar Variation Id:
7092
ClinVar RCV Id:
RCV000007509
dbSNP Id:
rs121909048
PubMed:
PMID:12089525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67165827T>C , CM000678.2:g.67165827T>C | GRCh38 |
| NC_000016.9:g.67199730T>C , CM000678.1:g.67199730T>C | GRCh37 |
| NC_000016.8:g.65757231T>C | NCBI36 |
| NG_009294.1:g.7443T>C | |
| NG_029566.1:g.326T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517867.2:n.624T>C | ||
| ENST00000523077.2:n.840T>C | ||
| ENST00000521374.6:c.341T>C MANE Select | ENSP00000430947.2:p.Leu114Pro | |
| ENST00000434833.6:c.341T>C | ENSP00000403219.2:p.Leu114Pro | |
| ENST00000517685.5:c.341T>C | ENSP00000428978.1:p.Leu114Pro | |
| ENST00000517729.5:c.215T>C | ENSP00000430299.1:p.Leu72Pro | |
| ENST00000521314.5:c.*88T>C | ENSP00000429580.1:n.*88T>C | |
| ENST00000521374.5:c.341T>C | ENSP00000430947.1:p.Leu114Pro | |
| ENST00000521624.5:c.341T>C | ENSP00000428161.1:p.Leu114Pro | |
| ENST00000522023.1:n.408T>C | ||
| ENST00000522295.5:c.341T>C | ENSP00000427832.1:p.Leu114Pro | |
| ENST00000522870.5:n.560T>C | ||
| ENST00000523562.5:c.341T>C | ENSP00000430631.1:p.Leu114Pro | |
| ENST00000584272.5:c.341T>C | ENSP00000463706.1:p.Leu114Pro | |
| NM_001040667.2:c.341T>C | NP_001035757.1:p.Leu114Pro | |
| NM_001538.3:c.341T>C | NP_001529.2:p.Leu114Pro | |
| NM_001040667.3:c.341T>C | NP_001035757.1:p.Leu114Pro | |
| NM_001374674.1:c.341T>C | NP_001361603.1:p.Leu114Pro | |
| NM_001374675.1:c.341T>C MANE Select | NP_001361604.1:p.Leu114Pro | |
| NM_001538.4:c.341T>C | NP_001529.2:p.Leu114Pro |