Linked Data
ClinVar Variation Id:
2169485
ClinVar RCV Id:
RCV003084851
dbSNP Id:
rs1658540031
gnomAD v4:
1-169485576-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485576A>G , CM000663.2:g.169485576A>G | GRCh38 |
| NC_000001.10:g.169454814A>G , CM000663.1:g.169454814A>G | GRCh37 |
| NC_000001.9:g.167721438A>G | NCBI36 |
| NG_008255.1:g.5395T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.191T>C MANE Select | ENSP00000236137.5:p.Leu64Pro | |
| ENST00000646596.1:c.191T>C | ENSP00000494404.1:p.Leu64Pro | |
| ENST00000236137.9:c.191T>C | ENSP00000236137.5:p.Leu64Pro | |
| ENST00000367804.4:c.191T>C | ENSP00000356778.3:p.Leu64Pro | |
| NM_006996.2:c.191T>C | NP_008927.1:p.Leu64Pro | |
| XM_011509076.1:c.12+477T>C | XP_011507378.1:n.12+477T>C | |
| XM_011509077.1:c.191T>C | XP_011507379.1:p.Leu64Pro | |
| NM_001319667.1:c.191T>C | NP_001306596.1:p.Leu64Pro | |
| NM_006996.3:c.191T>C MANE Select | NP_008927.1:p.Leu64Pro |