Linked Data
ClinVar Variation Id:
45503
dbSNP Id:
rs35002004
ExAC:
13:20797131 C / T
gnomAD v2:
13-20797131-C-T
gnomAD v3:
13-20222992-C-T
gnomAD v4:
13-20222992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20222992C>T , CM000675.2:g.20222992C>T | GRCh38 |
| NC_000013.10:g.20797131C>T , CM000675.1:g.20797131C>T | GRCh37 |
| NC_000013.9:g.19695131C>T | NCBI36 |
| NG_008323.1:g.14404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241124.11:c.489G>A | ENSP00000241124.6:p.Leu163= | |
| ENST00000400066.8:c.489G>A | ENSP00000382939.3:p.Leu163= | |
| ENST00000636852.1:c.489G>A | ENSP00000489698.1:p.Leu163= | |
| ENST00000643121.1:c.489G>A | ENSP00000494468.1:p.Leu163= | |
| ENST00000643211.1:c.489G>A | ENSP00000495841.1:p.Leu163= | |
| ENST00000644283.1:c.489G>A | ENSP00000495320.1:p.Leu163= | |
| ENST00000644667.1:c.489G>A | ENSP00000493621.1:p.Leu163= | |
| ENST00000647029.1:c.489G>A MANE Select | ENSP00000493834.1:p.Leu163= | |
| ENST00000647243.1:c.489G>A | ENSP00000494733.1:p.Leu163= | |
| ENST00000241124.10:c.489G>A | ENSP00000241124.6:p.Leu163= | |
| ENST00000356192.6:c.489G>A | ENSP00000348521.6:p.Leu163= | |
| ENST00000400065.7:c.489G>A | ENSP00000382938.3:p.Leu163= | |
| ENST00000400066.7:c.489G>A | ENSP00000382939.3:p.Leu163= | |
| NM_001110219.2:c.489G>A | NP_001103689.1:p.Leu163= | |
| NM_001110220.2:c.489G>A | NP_001103690.1:p.Leu163= | |
| NM_001110221.2:c.489G>A | NP_001103691.1:p.Leu163= | |
| NM_006783.4:c.489G>A | NP_006774.2:p.Leu163= | |
| NM_001110219.3:c.489G>A MANE Select | NP_001103689.1:p.Leu163= | |
| NM_001370090.1:c.489G>A | NP_001357019.1:p.Leu163= | |
| NM_001370091.1:c.489G>A | NP_001357020.1:p.Leu163= | |
| NM_001370092.1:c.489G>A | NP_001357021.1:p.Leu163= | |
| NM_001110220.3:c.489G>A | NP_001103690.1:p.Leu163= | |
| NM_001110221.3:c.489G>A | NP_001103691.1:p.Leu163= | |
| NM_006783.5:c.489G>A | NP_006774.2:p.Leu163= |