Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69265684C>T , CM000672.2:g.69265684C>T | GRCh38 |
| NC_000010.10:g.71025440C>T , CM000672.1:g.71025440C>T | GRCh37 |
| NC_000010.9:g.70695446C>T | NCBI36 |
| NG_012077.1:g.685C>T , LRG_365:g.685C>T | |
| NG_051555.1:g.50382C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025130.4:c.2472C>T MANE Select | NP_079406.4:p.Ala824= |
| ENST00000354624.6:c.2472C>T MANE Select | ENSP00000346643.5:p.Ala824= |
| NM_025130.3:c.2472C>T | NP_079406.3:p.Ala824= |
| ENST00000354624.5:c.2472C>T | ENSP00000346643.5:p.Ala824= |
| XR_001747209.1:n.2736C>T |