Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421396A>C , CM000671.2:g.101421396A>C | GRCh38 |
| NC_000009.11:g.104183678A>C , CM000671.1:g.104183678A>C | GRCh37 |
| NC_000009.10:g.103223499A>C | NCBI36 |
| NG_012387.1:g.19385T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.*413T>G MANE Select | ENSP00000497767.1:n.*413T>G | |
| ENST00000374855.8:c.*413T>G | ENSP00000363988.4:n.*413T>G | |
| NM_000035.3:c.*413T>G | NP_000026.2:n.*413T>G | |
| NM_000035.4:c.*413T>G MANE Select | NP_000026.2:n.*413T>G |