Linked Data
MyVariant Identifiers:
chr11:g.116703549G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832833G>A , CM000673.2:g.116832833G>A | GRCh38 |
| NC_000011.9:g.116703549G>A , CM000673.1:g.116703549G>A | GRCh37 |
| NC_000011.8:g.116208759G>A | NCBI36 |
| NG_008949.1:g.7926G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.249G>A MANE Select | ENSP00000227667.2:p.Glu83= | |
| ENST00000227667.7:c.249G>A | ENSP00000227667.2:p.Glu83= | |
| ENST00000375345.3:c.303G>A | ENSP00000364494.1:p.Glu101= | |
| ENST00000630701.1:c.303G>A | ENSP00000486182.1:p.Glu101= | |
| NM_000040.1:c.249G>A | NP_000031.1:p.Glu83= | |
| NM_000040.2:c.249G>A | NP_000031.1:p.Glu83= | |
| NM_000040.3:c.249G>A MANE Select | NP_000031.1:p.Glu83= |