Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224841T>G , CM000668.2:g.6224841T>G | GRCh38 |
| NC_000006.11:g.6225074T>G , CM000668.1:g.6225074T>G | GRCh37 |
| NC_000006.10:g.6170073T>G | NCBI36 |
| NG_008107.1:g.100851A>C , LRG_549:g.100851A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.818A>C MANE Select | ENSP00000264870.3:p.Glu273Ala | |
| ENST00000264870.7:c.818A>C | ENSP00000264870.3:p.Glu273Ala | |
| NM_000129.3:c.818A>C , LRG_549t1:c.818A>C | NP_000120.2:p.Glu273Ala | |
| XM_006715010.2:c.818A>C | XP_006715073.1:p.Glu273Ala | |
| XM_011514342.1:c.980A>C | XP_011512644.1:p.Glu327Ala | |
| NM_000129.4:c.818A>C MANE Select | NP_000120.2:p.Glu273Ala |