Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2433905G>C , CM000681.2:g.2433905G>C | GRCh38 |
| NC_000019.9:g.2433903G>C , CM000681.1:g.2433903G>C | GRCh37 |
| NC_000019.8:g.2384903G>C | NCBI36 |
| NG_008355.1:g.28056C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1403C>G MANE Select | NP_116126.3:p.Ala468Gly |
| ENST00000325327.4:c.1403C>G MANE Select | ENSP00000327054.3:p.Ala468Gly |
| NM_032737.3:c.1403C>G | NP_116126.3:p.Ala468Gly |
| ENST00000325327.3:c.1403C>G | ENSP00000327054.3:p.Ala468Gly |
| ENST00000490554.5:n.594C>G | |
| XM_011528378.1:c.1403C>G | XP_011526680.1:p.Ala468Gly |
| XM_011528379.1:c.1055C>G | XP_011526681.1:p.Ala352Gly |