Linked Data
MyVariant Identifiers:
chr8:g.19811746A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954235A>T , CM000670.2:g.19954235A>T | GRCh38 |
| NC_000008.10:g.19811746A>T , CM000670.1:g.19811746A>T | GRCh37 |
| NC_000008.9:g.19856026A>T | NCBI36 |
| NG_008855.1:g.20165A>T | |
| NG_008855.2:g.57519A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.657A>T MANE Select | ENSP00000497642.1:p.Arg219= | |
| ENST00000311322.8:c.657A>T | ENSP00000309757.6:p.Arg219= | |
| NM_000237.2:c.657A>T | NP_000228.1:p.Arg219= | |
| NM_000237.3:c.657A>T MANE Select | NP_000228.1:p.Arg219= |