Linked Data
dbSNP Id:
rs1561590706
gnomAD v4:
5-146340216-C-T
MyVariant Identifiers:
chr5:g.145719779C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340216C>T , CM000667.2:g.146340216C>T | GRCh38 |
| NC_000005.9:g.145719779C>T , CM000667.1:g.145719779C>T | GRCh37 |
| NC_000005.8:g.145699972C>T | NCBI36 |
| NG_011885.1:g.6193C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.789C>T MANE Select | ENSP00000495718.1:p.Asn263= | |
| ENST00000230732.4:c.789C>T | ENSP00000230732.4:p.Asn263= | |
| NM_002700.2:c.789C>T | NP_002691.1:p.Asn263= | |
| NM_002700.3:c.789C>T MANE Select | NP_002691.1:p.Asn263= |