Linked Data
MyVariant Identifiers:
chr1:g.94463456G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997900G>T , CM000663.2:g.93997900G>T | GRCh38 |
| NC_000001.10:g.94463456G>T , CM000663.1:g.94463456G>T | GRCh37 |
| NC_000001.9:g.94236044G>T | NCBI36 |
| NG_009073.1:g.128250C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6690C>A MANE Select | ENSP00000359245.3:p.Leu2230= | |
| ENST00000370225.3:c.6690C>A | ENSP00000359245.3:p.Leu2230= | |
| ENST00000536513.5:c.3066C>A | ENSP00000439707.2:p.Leu1022= | |
| NM_000350.2:c.6690C>A | NP_000341.2:p.Leu2230= | |
| NM_000350.3:c.6690C>A MANE Select | NP_000341.2:p.Leu2230= |