Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55368504C>G , CM000681.2:g.55368504C>G | GRCh38 |
| NC_000019.9:g.55879872C>G , CM000681.1:g.55879872C>G | GRCh37 |
| NC_000019.8:g.60571684C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000641.4:c.246G>C MANE Select | NP_000632.1:p.Ala82= |
| ENST00000264563.7:c.246G>C MANE Select | ENSP00000264563.1:p.Ala82= |
| NM_000641.3:c.246G>C | NP_000632.1:p.Ala82= |
| NM_001267718.1:c.9G>C | NP_001254647.1:p.Ala3= |
| NM_001267718.2:c.9G>C | NP_001254647.1:p.Ala3= |
| ENST00000264563.6:c.246G>C | ENSP00000264563.1:p.Ala82= |
| ENST00000585513.1:c.246G>C | ENSP00000467355.1:p.Ala82= |
| ENST00000587093.1:c.9G>C | ENSP00000468663.1:p.Ala3= |
| ENST00000590625.5:c.9G>C | ENSP00000465705.1:p.Ala3= |