Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70010791C>T , CM000676.2:g.70010791C>T | GRCh38 |
| NC_000014.8:g.70477508C>T , CM000676.1:g.70477508C>T | GRCh37 |
| NC_000014.7:g.69547261C>T | NCBI36 |
| NG_028217.1:g.136395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361956.8:c.702C>T MANE Select | ENSP00000355110.4:p.Ala234= | |
| ENST00000361956.7:c.702C>T | ENSP00000355110.3:p.Ala234= | |
| ENST00000381280.4:c.702C>T | ENSP00000370680.4:p.Ala234= | |
| ENST00000557483.1:n.280C>T | ||
| NM_001034852.2:c.702C>T | NP_001030024.1:p.Ala234= | |
| NM_022137.5:c.702C>T | NP_071420.1:p.Ala234= | |
| XM_005267995.1:c.735C>T | XP_005268052.1:p.Ala245= | |
| XM_005267996.1:c.735C>T | XP_005268053.1:p.Ala245= | |
| NM_001034852.3:c.702C>T MANE Select | NP_001030024.1:p.Ala234= | |
| NM_022137.6:c.702C>T | NP_071420.1:p.Ala234= |