Linked Data
ClinVar Variation Id:
11392
ClinVar RCV Id:
RCV000012145
dbSNP Id:
rs128622212
PubMed:
PMID:7849697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101349910A>G , CM000685.2:g.101349910A>G | GRCh38 |
| NC_000023.10:g.100604898A>G , CM000685.1:g.100604898A>G | GRCh37 |
| NC_000023.9:g.100491554A>G | NCBI36 |
| NG_009616.1:g.41315T>C , LRG_128:g.41315T>C | |
| NG_011734.1:g.4060T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478995.2:n.3472T>C | ||
| ENST00000488970.2:n.4111T>C | ||
| ENST00000695614.1:c.1955T>C | ENSP00000512053.1:p.Leu652Pro | |
| ENST00000695615.1:c.1955T>C | ENSP00000512054.1:p.Leu652Pro | |
| ENST00000695616.1:c.*1800T>C | ENSP00000512055.1:n.*1800T>C | |
| ENST00000695617.1:c.1952T>C | ENSP00000512056.1:p.Leu651Pro | |
| ENST00000695618.1:c.*1704T>C | ENSP00000512058.1:n.*1704T>C | |
| ENST00000695619.1:c.*1665T>C | ENSP00000512059.1:n.*1665T>C | |
| ENST00000695620.1:c.*1881T>C | ENSP00000512060.1:n.*1881T>C | |
| ENST00000695621.1:c.*380T>C | ENSP00000512061.1:n.*380T>C | |
| ENST00000695622.1:c.1892T>C | ENSP00000512062.1:p.Leu631Pro | |
| ENST00000695623.1:c.1949T>C | ENSP00000512063.1:p.Leu650Pro | |
| ENST00000695624.1:n.1260T>C | ||
| ENST00000695625.1:c.1922T>C | ENSP00000512064.1:p.Leu641Pro | |
| ENST00000695626.1:c.710T>C | ENSP00000512065.1:n.710T>C | |
| ENST00000695627.1:c.903T>C | ENSP00000512066.1:n.903T>C | |
| ENST00000695628.1:c.514T>C | ENSP00000512067.1:n.514T>C | |
| ENST00000695629.1:c.395T>C | ENSP00000512068.1:p.Leu132Pro | |
| ENST00000695630.1:c.682T>C | ||
| ENST00000695631.1:c.216T>C | ||
| ENST00000703407.1:c.1427T>C | ENSP00000512057.1:p.Leu476Pro | |
| ENST00000308731.8:c.1955T>C MANE Select | ENSP00000308176.8:p.Leu652Pro | |
| ENST00000308731.7:c.1955T>C | ENSP00000308176.7:p.Leu652Pro | |
| ENST00000372880.5:c.1427T>C | ENSP00000361971.1:p.Leu476Pro | |
| ENST00000618050.4:c.1954T>C | ENSP00000479125.1:n.1954T>C | |
| ENST00000621635.4:c.2057T>C | ENSP00000483570.1:p.Leu686Pro | |
| NM_000061.2:c.1955T>C , LRG_128t1:c.1955T>C | NP_000052.1:p.Leu652Pro | |
| NM_001287344.1:c.2057T>C | NP_001274273.1:p.Leu686Pro | |
| NM_001287345.1:c.1427T>C | NP_001274274.1:p.Leu476Pro | |
| NM_000061.3:c.1955T>C MANE Select | NP_000052.1:p.Leu652Pro | |
| NM_001287344.2:c.2057T>C | NP_001274273.1:p.Leu686Pro | |
| NM_001287345.2:c.1427T>C | NP_001274274.1:p.Leu476Pro |