Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117693115T>C , CM000668.2:g.117693115T>C | GRCh38 |
| NC_000006.11:g.118014278T>C , CM000668.1:g.118014278T>C | GRCh37 |
| NC_000006.10:g.118120971T>C | NCBI36 |
| NG_054913.1:g.22662T>C | |
| NG_054913.2:g.22662T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.489T>C MANE Select | NP_612468.1:p.Asp163= |
| ENST00000368494.4:c.489T>C MANE Select | ENSP00000357480.3:p.Asp163= |
| NM_138459.3:c.489T>C | NP_612468.1:p.Asp163= |
| NM_138459.4:c.489T>C | NP_612468.1:p.Asp163= |
| ENST00000368494.3:c.489T>C | ENSP00000357480.3:p.Asp163= |