Linked Data
ClinVar Variation Id:
1447794
ClinVar RCV Id:
RCV001996923
dbSNP Id:
rs779119807
ExAC:
13:20797162 A / G
gnomAD v2:
13-20797162-A-G
gnomAD v4:
13-20223023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20223023A>G , CM000675.2:g.20223023A>G | GRCh38 |
| NC_000013.10:g.20797162A>G , CM000675.1:g.20797162A>G | GRCh37 |
| NC_000013.9:g.19695162A>G | NCBI36 |
| NG_008323.1:g.14373T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241124.11:c.458T>C | ENSP00000241124.6:p.Val153Ala | |
| ENST00000400066.8:c.458T>C | ENSP00000382939.3:p.Val153Ala | |
| ENST00000636852.1:c.458T>C | ENSP00000489698.1:p.Val153Ala | |
| ENST00000643121.1:c.458T>C | ENSP00000494468.1:p.Val153Ala | |
| ENST00000643211.1:c.458T>C | ENSP00000495841.1:p.Val153Ala | |
| ENST00000644283.1:c.458T>C | ENSP00000495320.1:p.Val153Ala | |
| ENST00000644667.1:c.458T>C | ENSP00000493621.1:p.Val153Ala | |
| ENST00000647029.1:c.458T>C MANE Select | ENSP00000493834.1:p.Val153Ala | |
| ENST00000647243.1:c.458T>C | ENSP00000494733.1:p.Val153Ala | |
| ENST00000241124.10:c.458T>C | ENSP00000241124.6:p.Val153Ala | |
| ENST00000356192.6:c.458T>C | ENSP00000348521.6:p.Val153Ala | |
| ENST00000400065.7:c.458T>C | ENSP00000382938.3:p.Val153Ala | |
| ENST00000400066.7:c.458T>C | ENSP00000382939.3:p.Val153Ala | |
| NM_001110219.2:c.458T>C | NP_001103689.1:p.Val153Ala | |
| NM_001110220.2:c.458T>C | NP_001103690.1:p.Val153Ala | |
| NM_001110221.2:c.458T>C | NP_001103691.1:p.Val153Ala | |
| NM_006783.4:c.458T>C | NP_006774.2:p.Val153Ala | |
| NM_001110219.3:c.458T>C MANE Select | NP_001103689.1:p.Val153Ala | |
| NM_001370090.1:c.458T>C | NP_001357019.1:p.Val153Ala | |
| NM_001370091.1:c.458T>C | NP_001357020.1:p.Val153Ala | |
| NM_001370092.1:c.458T>C | NP_001357021.1:p.Val153Ala | |
| NM_001110220.3:c.458T>C | NP_001103690.1:p.Val153Ala | |
| NM_001110221.3:c.458T>C | NP_001103691.1:p.Val153Ala | |
| NM_006783.5:c.458T>C | NP_006774.2:p.Val153Ala |