Linked Data
MyVariant Identifiers:
chr19:g.48923002A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419745A>C , CM000681.2:g.48419745A>C | GRCh38 |
| NC_000019.9:g.48923002A>C , CM000681.1:g.48923002A>C | GRCh37 |
| NC_000019.8:g.53614814A>C | NCBI36 |
| NG_052829.1:g.29871A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.2022A>C MANE Select | ENSP00000263269.2:p.Thr674= | |
| ENST00000263269.3:c.2022A>C | ENSP00000263269.2:p.Thr674= | |
| NM_000836.2:c.2022A>C | NP_000827.2:p.Thr674= | |
| XM_011526872.1:c.2022A>C | XP_011525174.1:p.Thr674= | |
| NM_000836.4:c.2022A>C MANE Select | NP_000827.2:p.Thr674= |