Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33004643C>A , CM000668.2:g.33004643C>A | GRCh38 |
| NC_000006.11:g.32972420C>A , CM000668.1:g.32972420C>A | GRCh37 |
| NC_000006.10:g.33080398C>A | NCBI36 |
| NG_012007.1:g.9970G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*2195G>T MANE Select | ENSP00000229829.3:n.*2195G>T | |
| ENST00000229829.6:c.*2195G>T | ENSP00000229829.3:n.*2195G>T | |
| NM_002119.3:c.*2195G>T | NP_002110.1:n.*2195G>T | |
| NM_002119.4:c.*2195G>T MANE Select | NP_002110.1:n.*2195G>T |