Linked Data
MyVariant Identifiers:
chr16:g.31004523A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993202A>G , CM000678.2:g.30993202A>G | GRCh38 |
| NC_000016.9:g.31004523A>G , CM000678.1:g.31004523A>G | GRCh37 |
| NC_000016.8:g.30912024A>G | NCBI36 |
| NG_041829.1:g.22307T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.714T>C MANE Select | ENSP00000215095.5:p.His238= | |
| ENST00000565419.2:c.714T>C | ENSP00000455899.1:p.His238= | |
| ENST00000215095.9:c.714T>C | ENSP00000215095.5:p.His238= | |
| ENST00000565419.1:c.714T>C | ENSP00000455899.1:p.His238= | |
| ENST00000569638.5:c.462T>C | ENSP00000457067.1:p.His154= | |
| NM_052874.4:c.714T>C | NP_443106.1:p.His238= | |
| XM_017022893.1:c.696T>C | XP_016878382.1:p.His232= | |
| NM_052874.5:c.714T>C MANE Select | NP_443106.1:p.His238= |