Linked Data
dbSNP Id:
rs760578234
ExAC:
2:241808735 A / G
gnomAD v2:
2-241808735-A-G
gnomAD v3:
2-240869318-A-G
gnomAD v4:
2-240869318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869318A>G , CM000664.2:g.240869318A>G | GRCh38 |
| NC_000002.11:g.241808735A>G , CM000664.1:g.241808735A>G | GRCh37 |
| NC_000002.10:g.241457408A>G | NCBI36 |
| NG_008005.1:g.5574A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.314A>G MANE Select | ENSP00000302620.3:p.Asn105Ser | |
| ENST00000307503.3:c.314A>G | ENSP00000302620.3:p.Asn105Ser | |
| ENST00000472436.1:n.334A>G | ||
| NM_000030.2:c.314A>G | NP_000021.1:p.Asn105Ser | |
| XR_924060.1:n.405+915T>C | ||
| NM_000030.3:c.314A>G MANE Select | NP_000021.1:p.Asn105Ser |