Linked Data
dbSNP Id:
rs112827609
ExAC:
4:68797740 A / C
gnomAD v3:
4-67932022-A-C
gnomAD v4:
4-67932022-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932022A>C , CM000666.2:g.67932022A>C | GRCh38 |
| NC_000004.11:g.68797740A>C , CM000666.1:g.68797740A>C | GRCh37 |
| NC_000004.10:g.68480335A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.291T>G MANE Select | ENSP00000426911.2:p.Asn97Lys | |
| ENST00000334830.11:c.300T>G | ENSP00000334611.7:p.Asn100Lys | |
| ENST00000396188.3:c.291T>G | ENSP00000379491.3:p.Asn97Lys | |
| ENST00000508048.5:c.291T>G | ENSP00000426911.2:p.Asn97Lys | |
| ENST00000513536.5:c.231T>G | ENSP00000427621.1:p.Asn77Lys | |
| NM_001114387.1:c.291T>G | NP_001107859.1:p.Asn97Lys | |
| NM_182606.3:c.300T>G | NP_872412.3:p.Asn100Lys | |
| NM_001114387.2:c.291T>G MANE Select | NP_001107859.1:p.Asn97Lys | |
| NM_182606.4:c.300T>G | NP_872412.3:p.Asn100Lys |