Linked Data
ClinVar Variation Id:
299684
dbSNP Id:
rs115859827
gnomAD v2:
10-26501162-A-G
gnomAD v3:
10-26212233-A-G
gnomAD v4:
10-26212233-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26212233A>G , CM000672.2:g.26212233A>G | GRCh38 |
| NC_000010.10:g.26501162A>G , CM000672.1:g.26501162A>G | GRCh37 |
| NC_000010.9:g.26541168A>G | NCBI36 |
| NG_011635.1:g.283161A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642920.2:c.*270A>G MANE Select | ENSP00000495965.1:n.*270A>G | |
| ENST00000644253.1:n.787A>G | ||
| ENST00000645292.1:n.581A>G | ||
| ENST00000265944.9:c.*270A>G | ENSP00000265944.4:n.*270A>G | |
| NM_017433.4:c.*270A>G | NP_059129.3:n.*270A>G | |
| XM_011519498.1:c.*270A>G | XP_011517800.1:n.*270A>G | |
| XM_011519499.1:c.*270A>G | XP_011517801.1:n.*270A>G | |
| XM_011519500.1:c.*270A>G | XP_011517802.1:n.*270A>G | |
| XM_011519501.1:c.*270A>G | XP_011517803.1:n.*270A>G | |
| XM_011519504.1:c.*172A>G | XP_011517806.1:n.*172A>G | |
| XM_011519505.1:c.*270A>G | XP_011517807.1:n.*270A>G | |
| XM_011519507.1:c.*270A>G | XP_011517809.1:n.*270A>G | |
| XM_011519512.1:c.*270A>G | XP_011517814.1:n.*270A>G | |
| XM_011519513.1:c.*270A>G | XP_011517815.1:n.*270A>G | |
| XR_930493.1:n.5218A>G | ||
| XM_011519498.2:c.*270A>G | XP_011517800.1:n.*270A>G | |
| XM_011519500.2:c.*270A>G | XP_011517802.1:n.*270A>G | |
| XM_011519513.2:c.*270A>G | XP_011517815.1:n.*270A>G | |
| XR_001747111.1:n.4178A>G | ||
| NM_017433.5:c.*270A>G MANE Select | NP_059129.3:n.*270A>G |