Linked Data
ClinVar Variation Id:
12941
dbSNP Id:
rs104893665
ExAC:
2:73115586 A / G
gnomAD v2:
2-73115586-A-G
gnomAD v3:
2-72888457-A-G
gnomAD v4:
2-72888457-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888457A>G , CM000664.2:g.72888457A>G | GRCh38 |
| NC_000002.11:g.73115586A>G , CM000664.1:g.73115586A>G | GRCh37 |
| NC_000002.10:g.72969094A>G | NCBI36 |
| NG_008234.1:g.6075A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234454.6:c.448A>G MANE Select | ENSP00000234454.5:p.Arg150Gly | |
| ENST00000234454.5:c.448A>G | ENSP00000234454.5:p.Arg150Gly | |
| ENST00000498749.1:n.393A>G | ||
| NM_003124.4:c.448A>G | NP_003115.1:p.Arg150Gly | |
| NM_003124.5:c.448A>G MANE Select | NP_003115.1:p.Arg150Gly |