Linked Data
dbSNP Id:
rs1264264822
gnomAD v2:
2-26358151-G-A
gnomAD v3:
2-26135282-G-A
gnomAD v4:
2-26135282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26135282G>A , CM000664.2:g.26135282G>A | GRCh38 |
| NC_000002.11:g.26358151G>A , CM000664.1:g.26358151G>A | GRCh37 |
| NC_000002.10:g.26211655G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264710.5:c.*261G>A MANE Select | ENSP00000264710.4:n.*261G>A | |
| ENST00000264710.4:c.*261G>A | ENSP00000264710.4:n.*261G>A | |
| ENST00000495146.5:n.1227G>A | ||
| NM_016131.4:c.*261G>A | NP_057215.3:n.*261G>A | |
| XM_024452565.1:c.*261G>A | XP_024308333.1:n.*261G>A | |
| NM_016131.5:c.*261G>A MANE Select | NP_057215.3:n.*261G>A |