Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830821G>C , CM000674.2:g.101830821G>C | GRCh38 |
| NC_000012.11:g.102224599G>C , CM000674.1:g.102224599G>C | GRCh37 |
| NC_000012.10:g.100748730G>C | NCBI36 |
| NG_021243.1:g.5047C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.-146C>G MANE Select | ENSP00000299314.7:n.-146C>G | |
| ENST00000299314.11:c.-146C>G | ENSP00000299314.7:n.-146C>G | |
| ENST00000392919.4:c.-146C>G | ENSP00000376651.4:n.-146C>G | |
| NM_024312.4:c.-146C>G | NP_077288.2:n.-146C>G | |
| XM_006719593.2:c.-146C>G | XP_006719656.1:n.-146C>G | |
| XM_017019961.1:c.-295C>G | XP_016875450.1:n.-295C>G | |
| NM_024312.5:c.-146C>G MANE Select | NP_077288.2:n.-146C>G |