Linked Data
ClinVar Variation Id:
18441
ClinVar RCV Id:
RCV000006410
dbSNP Id:
rs267607232
gnomAD v4:
11-93796509-T-C
PubMed:
PMID:20950787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.93796509T>C , CM000673.2:g.93796509T>C | GRCh38 |
| NC_000011.9:g.93529675T>C , CM000673.1:g.93529675T>C | GRCh37 |
| NC_000011.8:g.93169323T>C | NCBI36 |
| NG_028028.1:g.17271T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251871.9:c.1112T>C MANE Select | ENSP00000251871.3:p.Leu371Pro | |
| ENST00000507258.4:n.2825T>C | ||
| ENST00000525026.6:n.1419T>C | ||
| ENST00000529626.2:n.1115T>C | ||
| ENST00000531920.6:n.413T>C | ||
| ENST00000533133.6:c.1112T>C | ENSP00000433090.2:p.Leu371Pro | |
| ENST00000533367.6:n.150T>C | ||
| ENST00000638487.1:c.*438T>C | ENSP00000492294.1:n.*438T>C | |
| ENST00000638518.1:c.354-5326T>C | ||
| ENST00000638767.1:c.1673T>C | ENSP00000492220.1:p.Leu558Pro | |
| ENST00000638790.1:c.1140T>C | ENSP00000491457.1:n.1140T>C | |
| ENST00000639189.1:c.1112T>C | ENSP00000491770.1:p.Leu371Pro | |
| ENST00000639457.1:c.*438T>C | ENSP00000492391.1:n.*438T>C | |
| ENST00000639523.1:c.1047T>C | ||
| ENST00000639596.1:c.1112T>C | ENSP00000491918.1:p.Leu371Pro | |
| ENST00000639724.1:c.1112T>C | ENSP00000492625.1:p.Leu371Pro | |
| ENST00000640027.1:c.1112T>C | ENSP00000492872.1:p.Leu371Pro | |
| ENST00000640077.1:c.554-428T>C | ENSP00000490968.1:n.554-428T>C | |
| ENST00000640451.1:c.959T>C | ENSP00000492530.1:p.Leu320Pro | |
| ENST00000640473.1:c.251-1026T>C | ENSP00000491371.1:n.251-1026T>C | |
| ENST00000640521.1:c.1112T>C | ENSP00000491108.1:p.Leu371Pro | |
| ENST00000640583.1:n.1675T>C | ||
| ENST00000640804.1:n.1485T>C | ||
| ENST00000251871.7:c.1112T>C | ENSP00000251871.3:p.Leu371Pro | |
| ENST00000525026.5:n.2567T>C | ||
| ENST00000531920.5:n.413T>C | ||
| ENST00000533133.5:c.*397T>C | ENSP00000433090.1:n.*397T>C | |
| ENST00000533367.5:n.165T>C | ||
| NM_004268.4:c.1112T>C | NP_004259.3:p.Leu371Pro | |
| XM_011543068.1:c.1112T>C | XP_011541370.1:p.Leu371Pro | |
| XR_247218.1:n.1346T>C | ||
| XR_947872.1:n.1346T>C | ||
| NM_004268.5:c.1112T>C MANE Select | NP_004259.3:p.Leu371Pro |