Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117675884C>T , CM000668.2:g.117675884C>T | GRCh38 |
| NC_000006.11:g.117997047C>T , CM000668.1:g.117997047C>T | GRCh37 |
| NC_000006.10:g.118103740C>T | NCBI36 |
| NG_054913.1:g.5431C>T | |
| NG_054913.2:g.5431C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.214C>T MANE Select | NP_612468.1:p.Pro72Ser |
| ENST00000368494.4:c.214C>T MANE Select | ENSP00000357480.3:p.Pro72Ser |
| NM_138459.3:c.214C>T | NP_612468.1:p.Pro72Ser |
| NM_138459.4:c.214C>T | NP_612468.1:p.Pro72Ser |
| ENST00000368494.3:c.214C>T | ENSP00000357480.3:p.Pro72Ser |