Linked Data
ClinVar Variation Id:
9845
ClinVar RCV Id:
RCV000010519
dbSNP Id:
rs137852590
PubMed:
PMID:10485299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545667T>G , CM000685.2:g.67545667T>G | GRCh38 |
| NC_000023.10:g.66765509T>G , CM000685.1:g.66765509T>G | GRCh37 |
| NC_000023.9:g.66682234T>G | NCBI36 |
| NG_009014.2:g.6636T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.521T>G | ENSP00000379358.4:p.Leu174Ter | |
| ENST00000374690.9:c.521T>G MANE Select | ENSP00000363822.3:p.Leu174Ter | |
| ENST00000396044.8:c.521T>G | ENSP00000379359.3:p.Leu174Ter | |
| ENST00000612452.5:c.521T>G | ENSP00000484033.2:p.Leu174Ter | |
| ENST00000374690.7:c.521T>G | ENSP00000363822.3:p.Leu174Ter | |
| ENST00000396044.7:c.521T>G | ENSP00000379359.3:p.Leu174Ter | |
| ENST00000504326.5:c.521T>G | ENSP00000421155.1:p.Leu174Ter | |
| ENST00000513847.5:n.848T>G | ||
| ENST00000514029.5:c.521T>G | ENSP00000425199.1:p.Leu174Ter | |
| ENST00000612010.4:c.521T>G | ENSP00000482407.1:p.Leu174Ter | |
| ENST00000612452.4:c.-50T>G | ENSP00000484033.1:n.-50T>G | |
| ENST00000613054.2:c.521T>G | ENSP00000479013.1:p.Leu174Ter | |
| NM_000044.3:c.521T>G | NP_000035.2:p.Leu174Ter | |
| NM_000044.4:c.521T>G | NP_000035.2:p.Leu174Ter | |
| NM_001011645.3:c.-1263T>G | NP_001011645.1:n.-1263T>G | |
| NM_001348061.1:c.521T>G | NP_001334990.1:p.Leu174Ter | |
| NM_001348063.1:c.521T>G | NP_001334992.1:p.Leu174Ter | |
| NM_001348064.1:c.521T>G | NP_001334993.1:p.Leu174Ter | |
| NM_000044.6:c.521T>G MANE Select | NP_000035.2:p.Leu174Ter |