Linked Data
dbSNP Id:
rs752663886
ExAC:
12:14659867 T / G
gnomAD v2:
12-14659867-T-G
gnomAD v4:
12-14506933-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14506933T>G , CM000674.2:g.14506933T>G | GRCh38 |
| NC_000012.11:g.14659867T>G , CM000674.1:g.14659867T>G | GRCh37 |
| NC_000012.10:g.14551134T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1372A>C MANE Select | ENSP00000240617.5:p.Asn458His | |
| ENST00000240617.9:c.1372A>C | ENSP00000240617.5:p.Asn458His | |
| NM_024829.5:c.1372A>C | NP_079105.4:p.Asn458His | |
| NM_024829.6:c.1372A>C MANE Select | NP_079105.4:p.Asn458His |