Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813844G>A , CM000674.2:g.52813844G>A | GRCh38 |
| NC_000012.11:g.53207628G>A , CM000674.1:g.53207628G>A | GRCh37 |
| NC_000012.10:g.51493895G>A | NCBI36 |
| NG_007380.1:g.5708C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.215C>T MANE Select | NP_002263.3:p.Ala72Val |
| ENST00000551956.2:c.215C>T MANE Select | ENSP00000448220.1:p.Ala72Val |
| NM_002272.3:c.215C>T | NP_002263.3:p.Ala72Val |
| ENST00000548097.5:c.211+4C>T | ENSP00000449755.1:n.211+4C>T |
| ENST00000551956.1:c.215C>T | ENSP00000448220.1:p.Ala72Val |
| ENST00000552668.1:c.211+4C>T | ENSP00000447320.1:n.211+4C>T |