Linked Data
ClinVar Variation Id:
11334
ClinVar RCV Id:
RCV000012087
dbSNP Id:
rs104894946
PubMed:
PMID:12374769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80026711T>C , CM000685.2:g.80026711T>C | GRCh38 |
| NC_000023.10:g.79282210T>C , CM000685.1:g.79282210T>C | GRCh37 |
| NC_000023.9:g.79168866T>C | NCBI36 |
| NG_008998.1:g.16956T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373296.8:c.641T>C MANE Select | ENSP00000362393.3:p.Leu214Pro | |
| ENST00000373294.8:c.641T>C | ENSP00000362390.5:p.Leu214Pro | |
| ENST00000373296.7:c.641T>C | ENSP00000362393.3:p.Leu214Pro | |
| ENST00000626498.2:c.*253T>C | ENSP00000487527.1:n.*253T>C | |
| ENST00000626877.1:n.520T>C | ||
| NM_001109878.1:c.641T>C | NP_001103348.1:p.Leu214Pro | |
| NM_001109879.1:c.281T>C | NP_001103349.1:p.Leu94Pro | |
| NM_001303475.1:c.281T>C | NP_001290404.1:p.Leu94Pro | |
| NM_016954.2:c.641T>C | NP_058650.1:p.Leu214Pro | |
| XM_005262136.2:c.644T>C | XP_005262193.1:p.Leu215Pro | |
| XM_006724657.2:c.644T>C | XP_006724720.1:p.Leu215Pro | |
| XM_011530972.1:c.281T>C | XP_011529274.1:p.Leu94Pro | |
| NM_001109878.2:c.641T>C MANE Select | NP_001103348.1:p.Leu214Pro | |
| NM_001109879.2:c.281T>C | NP_001103349.1:p.Leu94Pro |