Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69350243C>G , CM000674.2:g.69350243C>G | GRCh38 |
| NC_000012.11:g.69744023C>G , CM000674.1:g.69744023C>G | GRCh37 |
| NC_000012.10:g.68030290C>G | NCBI36 |
| NG_008195.1:g.6890C>G , LRG_768:g.6890C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000239.3:c.272C>G MANE Select | NP_000230.1:p.Ala91Gly |
| ENST00000261267.7:c.272C>G MANE Select | ENSP00000261267.2:p.Ala91Gly |
| NM_000239.2:c.272C>G , LRG_768t1:c.272C>G | NP_000230.1:p.Ala91Gly |
| ENST00000261267.6:c.272C>G | ENSP00000261267.2:p.Ala91Gly |
| ENST00000548839.1:c.272C>G | ENSP00000449969.1:p.Ala91Gly |
| ENST00000549690.1:c.272C>G | ENSP00000449898.1:p.Ala91Gly |