Linked Data
dbSNP Id:
rs746805104
ExAC:
1:160851831 T / G
gnomAD v2:
1-160851831-T-G
gnomAD v3:
1-160882041-T-G
gnomAD v4:
1-160882041-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882041T>G , CM000663.2:g.160882041T>G | GRCh38 |
| NC_000001.10:g.160851831T>G , CM000663.1:g.160851831T>G | GRCh37 |
| NC_000001.9:g.159118455T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.321A>C MANE Select | ENSP00000323587.3:p.Lys107Asn | |
| ENST00000326245.3:c.321A>C | ENSP00000323587.3:p.Lys107Asn | |
| ENST00000464077.1:n.255A>C | ||
| NM_017625.2:c.321A>C | NP_060095.2:p.Lys107Asn | |
| NM_017625.3:c.321A>C MANE Select | NP_060095.2:p.Lys107Asn |