Linked Data
ClinVar Variation Id:
1932
ClinVar RCV Id:
RCV000002009
dbSNP Id:
rs119103215
PubMed:
PMID:11181649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183039093A>G , CM000665.2:g.183039093A>G | GRCh38 |
| NC_000003.11:g.182756881A>G , CM000665.1:g.182756881A>G | GRCh37 |
| NC_000003.10:g.184239575A>G | NCBI36 |
| NG_008100.1:g.65485T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1310T>C MANE Select | ENSP00000265594.4:p.Leu437Pro | |
| ENST00000265594.8:c.1310T>C | ENSP00000265594.4:p.Leu437Pro | |
| ENST00000476176.5:c.1169T>C | ENSP00000420433.1:p.Leu390Pro | |
| ENST00000492597.5:c.983T>C | ENSP00000419898.1:p.Leu328Pro | |
| ENST00000495767.5:c.*891T>C | ENSP00000419658.1:n.*891T>C | |
| ENST00000497830.5:c.*907T>C | ENSP00000420088.1:n.*907T>C | |
| ENST00000497959.5:c.1196T>C | ENSP00000420648.1:p.Leu399Pro | |
| ENST00000539926.5:c.860T>C | ENSP00000441253.2:p.Leu287Pro | |
| ENST00000610757.4:c.860T>C | ENSP00000480435.1:p.Leu287Pro | |
| ENST00000629669.2:c.1196T>C | ENSP00000486824.1:p.Leu399Pro | |
| NM_001293273.1:c.959T>C | NP_001280202.1:p.Leu320Pro | |
| NM_020166.4:c.1310T>C | NP_064551.3:p.Leu437Pro | |
| NR_120639.1:n.1224T>C | ||
| NR_120640.1:n.1977T>C | ||
| XM_006713702.1:c.983T>C | XP_006713765.1:p.Leu328Pro | |
| XM_011512992.1:c.1196T>C | XP_011511294.1:p.Leu399Pro | |
| XM_011512993.1:c.1310T>C | XP_011511295.1:p.Leu437Pro | |
| XR_241502.2:n.1457T>C | ||
| XR_924159.1:n.1457T>C | ||
| NM_001363880.1:c.983T>C | NP_001350809.1:p.Leu328Pro | |
| XM_011512992.2:c.1196T>C | XP_011511294.1:p.Leu399Pro | |
| XR_001740207.2:n.1433T>C | ||
| XR_001740208.2:n.1433T>C | ||
| XR_001740209.2:n.1403T>C | ||
| XR_001740210.1:n.1263T>C | ||
| XR_002959553.1:n.1433T>C | ||
| XR_002959554.1:n.1433T>C | ||
| XR_241502.3:n.1403T>C | ||
| NM_020166.5:c.1310T>C MANE Select | NP_064551.3:p.Leu437Pro | |
| NM_001293273.2:c.959T>C | NP_001280202.1:p.Leu320Pro | |
| NR_120639.2:n.1133T>C | ||
| NR_120640.2:n.1977T>C |