Linked Data
dbSNP Id:
rs779840675
ExAC:
6:32410977 C / A
gnomAD v2:
6-32410977-C-A
gnomAD v4:
6-32443200-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443200C>A , CM000668.2:g.32443200C>A | GRCh38 |
| NC_000006.11:g.32410977C>A , CM000668.1:g.32410977C>A | GRCh37 |
| NC_000006.10:g.32518955C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.344C>A MANE Select | ENSP00000378786.2:p.Thr115Asn | |
| ENST00000374982.5:c.329-60C>A | ENSP00000364121.5:n.329-60C>A | |
| ENST00000395388.6:c.344C>A | ENSP00000378786.2:p.Thr115Asn | |
| NM_019111.4:c.344C>A | NP_061984.2:p.Thr115Asn | |
| NM_019111.5:c.344C>A MANE Select | NP_061984.2:p.Thr115Asn |