Linked Data
ClinVar Variation Id:
11373
ClinVar RCV Id:
RCV000012126
dbSNP Id:
rs128621198
PubMed:
PMID:7849721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356910A>G , CM000685.2:g.101356910A>G | GRCh38 |
| NC_000023.10:g.100611898A>G , CM000685.1:g.100611898A>G | GRCh37 |
| NC_000023.9:g.100498554A>G | NCBI36 |
| NG_009616.1:g.34315T>C , LRG_128:g.34315T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1383T>C | ||
| ENST00000488970.2:n.1381T>C | ||
| ENST00000695614.1:c.1223T>C | ENSP00000512053.1:p.Leu408Pro | |
| ENST00000695615.1:c.1223T>C | ENSP00000512054.1:p.Leu408Pro | |
| ENST00000695616.1:c.*1068T>C | ENSP00000512055.1:n.*1068T>C | |
| ENST00000695617.1:c.1220T>C | ENSP00000512056.1:p.Leu407Pro | |
| ENST00000695618.1:c.*972T>C | ENSP00000512058.1:n.*972T>C | |
| ENST00000695619.1:c.*933T>C | ENSP00000512059.1:n.*933T>C | |
| ENST00000695620.1:c.*1068T>C | ENSP00000512060.1:n.*1068T>C | |
| ENST00000695621.1:c.1223T>C | ENSP00000512061.1:p.Leu408Pro | |
| ENST00000695622.1:c.1160T>C | ENSP00000512062.1:p.Leu387Pro | |
| ENST00000695623.1:c.1217T>C | ENSP00000512063.1:p.Leu406Pro | |
| ENST00000695624.1:n.528T>C | ||
| ENST00000695625.1:c.1223T>C | ENSP00000512064.1:p.Leu408Pro | |
| ENST00000695626.1:c.195T>C | ENSP00000512065.1:p.Ala65= | |
| ENST00000695627.1:c.236T>C | ENSP00000512066.1:p.Leu79Pro | |
| ENST00000695628.1:c.190+599T>C | ENSP00000512067.1:n.190+599T>C | |
| ENST00000695629.1:c.190+599T>C | ENSP00000512068.1:n.190+599T>C | |
| ENST00000695630.1:c.232T>C | ||
| ENST00000695631.1:c.114+1400T>C | ||
| ENST00000695632.1:n.240T>C | ||
| ENST00000703407.1:c.1038+1464T>C | ENSP00000512057.1:n.1038+1464T>C | |
| ENST00000308731.8:c.1223T>C MANE Select | ENSP00000308176.8:p.Leu408Pro | |
| ENST00000308731.7:c.1223T>C | ENSP00000308176.7:p.Leu408Pro | |
| ENST00000372880.5:c.1038+1464T>C | ENSP00000361971.1:n.1038+1464T>C | |
| ENST00000470329.1:n.173T>C | ||
| ENST00000618050.4:c.1223T>C | ENSP00000479125.1:p.Leu408Pro | |
| ENST00000621635.4:c.1325T>C | ENSP00000483570.1:p.Leu442Pro | |
| NM_000061.2:c.1223T>C , LRG_128t1:c.1223T>C | NP_000052.1:p.Leu408Pro | |
| NM_001287344.1:c.1325T>C | NP_001274273.1:p.Leu442Pro | |
| NM_001287345.1:c.1038+1464T>C | NP_001274274.1:n.1038+1464T>C | |
| NM_000061.3:c.1223T>C MANE Select | NP_000052.1:p.Leu408Pro | |
| NM_001287344.2:c.1325T>C | NP_001274273.1:p.Leu442Pro | |
| NM_001287345.2:c.1038+1464T>C | NP_001274274.1:n.1038+1464T>C |