Linked Data
dbSNP Id:
rs35339463
gnomAD v2:
2-26358150-A-G
gnomAD v3:
2-26135281-A-G
gnomAD v4:
2-26135281-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26135281A>G , CM000664.2:g.26135281A>G | GRCh38 |
| NC_000002.11:g.26358150A>G , CM000664.1:g.26358150A>G | GRCh37 |
| NC_000002.10:g.26211654A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264710.5:c.*260A>G MANE Select | ENSP00000264710.4:n.*260A>G | |
| ENST00000264710.4:c.*260A>G | ENSP00000264710.4:n.*260A>G | |
| ENST00000495146.5:n.1226A>G | ||
| NM_016131.4:c.*260A>G | NP_057215.3:n.*260A>G | |
| XM_024452565.1:c.*260A>G | XP_024308333.1:n.*260A>G | |
| NM_016131.5:c.*260A>G MANE Select | NP_057215.3:n.*260A>G |