Linked Data
ClinVar Variation Id:
213299
dbSNP Id:
rs771853346
ExAC:
5:127681121 C / G
gnomAD v2:
5-127681121-C-G
gnomAD v4:
5-128345429-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128345429C>G , CM000667.2:g.128345429C>G | GRCh38 |
| NC_000005.9:g.127681121C>G , CM000667.1:g.127681121C>G | GRCh37 |
| NC_000005.8:g.127709020C>G | NCBI36 |
| NG_008750.1:g.197615G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3145G>C MANE Select | ENSP00000262464.4:p.Glu1049Gln | |
| ENST00000262464.8:c.3145G>C | ENSP00000262464.4:p.Glu1049Gln | |
| ENST00000508053.5:c.3145G>C | ENSP00000424571.1:p.Glu1049Gln | |
| ENST00000508989.5:c.3046G>C | ENSP00000425596.1:p.Glu1016Gln | |
| ENST00000619499.4:c.3142G>C | ENSP00000482132.1:p.Glu1048Gln | |
| NM_001999.3:c.3145G>C | NP_001990.2:p.Glu1049Gln | |
| XM_017009228.2:c.2992G>C | XP_016864717.1:p.Glu998Gln | |
| NM_001999.4:c.3145G>C MANE Select | NP_001990.2:p.Glu1049Gln |