Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41018255T>C , CM000681.2:g.41018255T>C | GRCh38 |
| NC_000019.9:g.41524160T>C , CM000681.1:g.41524160T>C | GRCh37 |
| NC_000019.8:g.46216000T>C | NCBI36 |
| NG_007929.1:g.31957T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.*1428T>C MANE Select | ENSP00000324648.2:n.*1428T>C | |
| ENST00000324071.8:c.*1428T>C | ENSP00000324648.2:n.*1428T>C | |
| NM_000767.4:c.*1428T>C | NP_000758.1:n.*1428T>C | |
| XM_011526548.1:c.*1428T>C | XP_011524850.1:n.*1428T>C | |
| XM_011526549.1:c.*1428T>C | XP_011524851.1:n.*1428T>C | |
| XM_011526550.1:c.*1428T>C | XP_011524852.1:n.*1428T>C | |
| NM_000767.5:c.*1428T>C MANE Select | NP_000758.1:n.*1428T>C |