Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830856G>A , CM000674.2:g.101830856G>A | GRCh38 |
| NC_000012.11:g.102224634G>A , CM000674.1:g.102224634G>A | GRCh37 |
| NC_000012.10:g.100748765G>A | NCBI36 |
| NG_021243.1:g.5012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.-181C>T MANE Select | ENSP00000299314.7:n.-181C>T | |
| ENST00000299314.11:c.-181C>T | ENSP00000299314.7:n.-181C>T | |
| NM_024312.4:c.-181C>T | NP_077288.2:n.-181C>T | |
| XM_006719593.2:c.-181C>T | XP_006719656.1:n.-181C>T | |
| NM_024312.5:c.-181C>T MANE Select | NP_077288.2:n.-181C>T |