Linked Data
ClinVar Variation Id:
2933778
ClinVar RCV Id:
RCV003793336
dbSNP Id:
rs749296000
ExAC:
13:20797193 G / A
gnomAD v2:
13-20797193-G-A
gnomAD v4:
13-20223054-G-A
COSMIC:
COSM5376492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20223054G>A , CM000675.2:g.20223054G>A | GRCh38 |
| NC_000013.10:g.20797193G>A , CM000675.1:g.20797193G>A | GRCh37 |
| NC_000013.9:g.19695193G>A | NCBI36 |
| NG_008323.1:g.14342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241124.11:c.427C>T | ENSP00000241124.6:p.Arg143Ter | |
| ENST00000400066.8:c.427C>T | ENSP00000382939.3:p.Arg143Ter | |
| ENST00000636852.1:c.427C>T | ENSP00000489698.1:p.Arg143Ter | |
| ENST00000643121.1:c.427C>T | ENSP00000494468.1:p.Arg143Ter | |
| ENST00000643211.1:c.427C>T | ENSP00000495841.1:p.Arg143Ter | |
| ENST00000644283.1:c.427C>T | ENSP00000495320.1:p.Arg143Ter | |
| ENST00000644667.1:c.427C>T | ENSP00000493621.1:p.Arg143Ter | |
| ENST00000647029.1:c.427C>T MANE Select | ENSP00000493834.1:p.Arg143Ter | |
| ENST00000647243.1:c.427C>T | ENSP00000494733.1:p.Arg143Ter | |
| ENST00000241124.10:c.427C>T | ENSP00000241124.6:p.Arg143Ter | |
| ENST00000356192.6:c.427C>T | ENSP00000348521.6:p.Arg143Ter | |
| ENST00000400065.7:c.427C>T | ENSP00000382938.3:p.Arg143Ter | |
| ENST00000400066.7:c.427C>T | ENSP00000382939.3:p.Arg143Ter | |
| NM_001110219.2:c.427C>T | NP_001103689.1:p.Arg143Ter | |
| NM_001110220.2:c.427C>T | NP_001103690.1:p.Arg143Ter | |
| NM_001110221.2:c.427C>T | NP_001103691.1:p.Arg143Ter | |
| NM_006783.4:c.427C>T | NP_006774.2:p.Arg143Ter | |
| NM_001110219.3:c.427C>T MANE Select | NP_001103689.1:p.Arg143Ter | |
| NM_001370090.1:c.427C>T | NP_001357019.1:p.Arg143Ter | |
| NM_001370091.1:c.427C>T | NP_001357020.1:p.Arg143Ter | |
| NM_001370092.1:c.427C>T | NP_001357021.1:p.Arg143Ter | |
| NM_001110220.3:c.427C>T | NP_001103690.1:p.Arg143Ter | |
| NM_001110221.3:c.427C>T | NP_001103691.1:p.Arg143Ter | |
| NM_006783.5:c.427C>T | NP_006774.2:p.Arg143Ter |