Linked Data
ClinVar Variation Id:
9808
ClinVar RCV Id:
RCV000010482
dbSNP Id:
rs137852566
PubMed:
PMID:2293020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67686012A>T , CM000685.2:g.67686012A>T | GRCh38 |
| NC_000023.10:g.66905854A>T , CM000685.1:g.66905854A>T | GRCh37 |
| NC_000023.9:g.66822579A>T | NCBI36 |
| NG_009014.2:g.146981A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*119A>T | ENSP00000379358.4:n.*119A>T | |
| ENST00000374690.9:c.1771A>T MANE Select | ENSP00000363822.3:p.Lys591Ter | |
| ENST00000396043.3:c.398A>T | ENSP00000379358.3:n.398A>T | |
| ENST00000396044.8:c.1771A>T | ENSP00000379359.3:p.Lys591Ter | |
| ENST00000612452.5:c.1771A>T | ENSP00000484033.2:p.Lys591Ter | |
| ENST00000374690.7:c.1771A>T | ENSP00000363822.3:p.Lys591Ter | |
| ENST00000396043.2:c.175A>T | ENSP00000379358.2:p.Lys59Ter | |
| ENST00000396044.7:c.1771A>T | ENSP00000379359.3:p.Lys591Ter | |
| ENST00000504326.5:c.1771A>T | ENSP00000421155.1:p.Lys591Ter | |
| ENST00000513847.5:n.2098A>T | ||
| ENST00000514029.5:c.*252A>T | ENSP00000425199.1:n.*252A>T | |
| ENST00000612010.4:c.*123A>T | ENSP00000482407.1:n.*123A>T | |
| ENST00000612452.4:c.1201A>T | ENSP00000484033.1:p.Lys401Ter | |
| ENST00000613054.2:c.1688A>T | ENSP00000479013.1:p.Glu563Val | |
| NM_000044.3:c.1771A>T | NP_000035.2:p.Lys591Ter | |
| NM_001011645.2:c.175A>T | NP_001011645.1:p.Lys59Ter | |
| NM_000044.4:c.1771A>T | NP_000035.2:p.Lys591Ter | |
| NM_001011645.3:c.175A>T | NP_001011645.1:p.Lys59Ter | |
| NM_001348061.1:c.1771A>T | NP_001334990.1:p.Lys591Ter | |
| NM_001348063.1:c.1771A>T | NP_001334992.1:p.Lys591Ter | |
| NM_001348064.1:c.1688A>T | NP_001334993.1:p.Glu563Val | |
| NM_000044.6:c.1771A>T MANE Select | NP_000035.2:p.Lys591Ter |