Linked Data
ClinVar Variation Id:
192305
ClinVar RCV Id:
RCV000172881
dbSNP Id:
rs786205903
PubMed:
PMID:25938945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803583T>C , CM000663.2:g.180803583T>C | GRCh38 |
| NC_000001.10:g.180772719T>C , CM000663.1:g.180772719T>C | GRCh37 |
| NC_000001.9:g.179039342T>C | NCBI36 |
| NG_050964.1:g.176574T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367590.9:c.419T>C MANE Select | ENSP00000356562.4:p.Leu140Pro | |
| ENST00000367589.3:c.419T>C | ENSP00000356561.3:p.Leu140Pro | |
| ENST00000367590.8:c.419T>C | ENSP00000356562.4:p.Leu140Pro | |
| NM_001135669.1:c.419T>C | NP_001129141.1:p.Leu140Pro | |
| NM_004736.3:c.419T>C | NP_004727.2:p.Leu140Pro | |
| NM_001328662.1:c.419T>C | NP_001315591.1:p.Leu140Pro | |
| NR_137330.1:n.611T>C | ||
| NM_001135669.2:c.419T>C | NP_001129141.1:p.Leu140Pro | |
| NM_001328662.2:c.419T>C | NP_001315591.1:p.Leu140Pro | |
| NM_004736.4:c.419T>C MANE Select | NP_004727.2:p.Leu140Pro | |
| NR_137330.2:n.599T>C |