Linked Data
MyVariant Identifiers:
chr1:g.196716398A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747268A>G , CM000663.2:g.196747268A>G | GRCh38 |
| NC_000001.10:g.196716398A>G , CM000663.1:g.196716398A>G | GRCh37 |
| NC_000001.9:g.194983021A>G | NCBI36 |
| NG_007259.1:g.100258A>G , LRG_47:g.100258A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367429.9:c.3651A>G MANE Select | ENSP00000356399.4:p.Thr1217= | |
| ENST00000367429.8:c.3651A>G | ENSP00000356399.4:p.Thr1217= | |
| NM_000186.3:c.3651A>G , LRG_47t1:c.3651A>G | NP_000177.2:p.Thr1217= | |
| NM_000186.4:c.3651A>G MANE Select | NP_000177.2:p.Thr1217= |