Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154067G>C , CM000681.2:g.55154067G>C | GRCh38 |
| NC_000019.9:g.55665435G>C , CM000681.1:g.55665435G>C | GRCh37 |
| NC_000019.8:g.60357247G>C | NCBI36 |
| NG_007866.2:g.8666C>G , LRG_432:g.8666C>G | |
| NG_011829.2:g.172C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.512C>G MANE Select | ENSP00000341838.5:p.Ala171Gly | |
| ENST00000665070.1:c.545C>G | ENSP00000499482.1:p.Ala182Gly | |
| ENST00000344887.9:c.512C>G | ENSP00000341838.5:p.Ala171Gly | |
| ENST00000585806.5:n.511C>G | ||
| ENST00000588882.1:c.437C>G | ENSP00000466729.1:p.Ala146Gly | |
| ENST00000589864.1:n.340C>G | ||
| NM_000363.4:c.512C>G , LRG_432t1:c.512C>G | NP_000354.4:p.Ala171Gly | |
| NM_000363.5:c.512C>G MANE Select | NP_000354.4:p.Ala171Gly |