Linked Data
dbSNP Id:
rs754536347
ExAC:
2:16085640 T / G
gnomAD v2:
2-16085640-T-G
gnomAD v3:
2-15945518-T-G
gnomAD v4:
2-15945518-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945518T>G , CM000664.2:g.15945518T>G | GRCh38 |
| NC_000002.11:g.16085640T>G , CM000664.1:g.16085640T>G | GRCh37 |
| NC_000002.10:g.16003091T>G | NCBI36 |
| NG_007457.1:g.9958T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.165T>G | ||
| ENST00000281043.4:c.816T>G MANE Select | ENSP00000281043.3:p.Asp272Glu | |
| ENST00000638417.1:c.183T>G | ENSP00000491476.1:p.Asp61Glu | |
| ENST00000281043.3:c.816T>G | ENSP00000281043.3:p.Asp272Glu | |
| NM_001293228.1:c.816T>G | NP_001280157.1:p.Asp272Glu | |
| NM_001293231.1:c.183T>G | NP_001280160.1:p.Asp61Glu | |
| NM_001293233.1:c.*751T>G | NP_001280162.1:n.*751T>G | |
| NM_005378.5:c.816T>G | NP_005369.2:p.Asp272Glu | |
| NM_005378.6:c.816T>G MANE Select | NP_005369.2:p.Asp272Glu | |
| NM_001293228.2:c.816T>G | NP_001280157.1:p.Asp272Glu | |
| NM_001293231.2:c.183T>G | NP_001280160.1:p.Asp61Glu | |
| NM_001293233.2:c.*751T>G | NP_001280162.1:n.*751T>G |