Linked Data
ClinVar Variation Id:
353660
dbSNP Id:
rs140869022
ExAC:
5:41801143 A / G
gnomAD v2:
5-41801143-A-G
gnomAD v3:
5-41801041-A-G
gnomAD v4:
5-41801041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41801041A>G , CM000667.2:g.41801041A>G | GRCh38 |
| NC_000005.9:g.41801143A>G , CM000667.1:g.41801143A>G | GRCh37 |
| NC_000005.8:g.41836900A>G | NCBI36 |
| NG_011823.1:g.74649T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.1080T>C MANE Select | ENSP00000196371.5:p.Asp360= | |
| ENST00000196371.9:c.1080T>C | ENSP00000196371.5:p.Asp360= | |
| ENST00000509987.1:c.522T>C | ENSP00000425348.1:p.Asp174= | |
| ENST00000514723.1:n.145-38841T>C | ||
| NM_000436.3:c.1080T>C | NP_000427.1:p.Asp360= | |
| XR_427658.2:n.1256T>C | ||
| NM_001364299.1:c.1101T>C | NP_001351228.1:p.Asp367= | |
| NM_001364300.1:c.1101T>C | NP_001351229.1:p.Asp367= | |
| NM_001364301.1:c.1074T>C | NP_001351230.1:p.Asp358= | |
| NM_001364302.1:c.1080T>C | NP_001351231.1:p.Asp360= | |
| NM_001364303.1:c.522T>C | NP_001351232.1:p.Asp174= | |
| NR_157114.1:n.1147T>C | ||
| XR_001742081.2:n.1257T>C | ||
| NM_000436.4:c.1080T>C MANE Select | NP_000427.1:p.Asp360= | |
| NM_001364299.2:c.1101T>C | NP_001351228.1:p.Asp367= | |
| NM_001364300.2:c.1101T>C | NP_001351229.1:p.Asp367= | |
| NM_001364301.2:c.1074T>C | NP_001351230.1:p.Asp358= | |
| NM_001364302.2:c.1080T>C | NP_001351231.1:p.Asp360= | |
| NR_157114.2:n.1147T>C | ||
| NM_001364303.2:c.522T>C | NP_001351232.1:p.Asp174= |