Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830819G>T , CM000674.2:g.101830819G>T | GRCh38 |
| NC_000012.11:g.102224597G>T , CM000674.1:g.102224597G>T | GRCh37 |
| NC_000012.10:g.100748728G>T | NCBI36 |
| NG_021243.1:g.5049C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.-144C>A MANE Select | ENSP00000299314.7:n.-144C>A | |
| ENST00000299314.11:c.-144C>A | ENSP00000299314.7:n.-144C>A | |
| ENST00000392919.4:c.-144C>A | ENSP00000376651.4:n.-144C>A | |
| NM_024312.4:c.-144C>A | NP_077288.2:n.-144C>A | |
| XM_006719593.2:c.-144C>A | XP_006719656.1:n.-144C>A | |
| XM_017019961.1:c.-293C>A | XP_016875450.1:n.-293C>A | |
| NM_024312.5:c.-144C>A MANE Select | NP_077288.2:n.-144C>A |