Linked Data
dbSNP Id:
rs750640752
ExAC:
6:24145912 A / T
gnomAD v2:
6-24145912-A-T
gnomAD v4:
6-24145684-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145684A>T , CM000668.2:g.24145684A>T | GRCh38 |
| NC_000006.11:g.24145912A>T , CM000668.1:g.24145912A>T | GRCh37 |
| NC_000006.10:g.24253891A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.326A>T MANE Select | ENSP00000367752.4:p.Asn109Ile | |
| ENST00000378477.2:c.326A>T | ENSP00000367738.2:p.Asn109Ile | |
| ENST00000378478.5:c.326A>T | ENSP00000367739.2:p.Asn109Ile | |
| ENST00000378491.8:c.326A>T | ENSP00000367752.4:p.Asn109Ile | |
| ENST00000468195.2:n.257-9087A>T | ||
| NM_080723.4:c.326A>T | NP_542454.3:p.Asn109Ile | |
| NM_080723.5:c.326A>T MANE Select | NP_542454.3:p.Asn109Ile |