Linked Data
MyVariant Identifiers:
chr16:g.2328333T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278332T>G , CM000678.2:g.2278332T>G | GRCh38 |
| NC_000016.9:g.2328333T>G , CM000678.1:g.2328333T>G | GRCh37 |
| NC_000016.8:g.2268334T>G | NCBI36 |
| NG_011790.1:g.67415A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4674A>C MANE Select | ENSP00000301732.5:p.Ala1558= | |
| ENST00000301732.9:c.4674A>C | ENSP00000301732.5:p.Ala1558= | |
| ENST00000382381.7:c.4500A>C | ENSP00000371818.3:p.Ala1500= | |
| ENST00000566200.1:n.1195A>C | ||
| NM_001089.2:c.4674A>C | NP_001080.2:p.Ala1558= | |
| NM_001089.3:c.4674A>C MANE Select | NP_001080.2:p.Ala1558= |