Linked Data
ClinVar Variation Id:
352000
dbSNP Id:
rs758150381
ExAC:
5:149314275 G / C
gnomAD v2:
5-149314275-G-C
gnomAD v3:
5-149934712-G-C
gnomAD v4:
5-149934712-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149934712G>C , CM000667.2:g.149934712G>C | GRCh38 |
| NC_000005.9:g.149314275G>C , CM000667.1:g.149314275G>C | GRCh37 |
| NC_000005.8:g.149294468G>C | NCBI36 |
| NG_009102.1:g.15082C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.481C>G MANE Select | ENSP00000255266.5:p.His161Asp | |
| ENST00000255266.9:c.481C>G | ENSP00000255266.5:p.His161Asp | |
| ENST00000508173.5:n.601C>G | ||
| ENST00000613228.1:c.475-3544C>G | ENSP00000478060.1:n.475-3544C>G | |
| ENST00000617647.4:c.475-3544C>G | ENSP00000482774.1:n.475-3544C>G | |
| NM_000440.2:c.481C>G | NP_000431.2:p.His161Asp | |
| XM_011537648.1:c.481C>G | XP_011535950.1:p.His161Asp | |
| XM_011537649.1:c.-66C>G | XP_011535951.1:n.-66C>G | |
| XM_017009572.2:c.475-3544C>G | XP_016865061.1:n.475-3544C>G | |
| NM_000440.3:c.481C>G MANE Select | NP_000431.2:p.His161Asp |