Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606605G>A , CM000665.2:g.30606605G>A | GRCh38 |
| NC_000003.11:g.30648097G>A , CM000665.1:g.30648097G>A | GRCh37 |
| NC_000003.10:g.30623101G>A | NCBI36 |
| NG_007490.1:g.5104G>A , LRG_779:g.5104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.-279G>A MANE Select | ENSP00000295754.5:n.-279G>A | |
| ENST00000295754.9:c.-279G>A | ENSP00000295754.5:n.-279G>A | |
| ENST00000359013.4:c.-279G>A | ENSP00000351905.4:n.-279G>A | |
| NM_001024847.2:c.-279G>A , LRG_779t1:c.-279G>A | NP_001020018.1:n.-279G>A | |
| NM_003242.5:c.-279G>A | NP_003233.4:n.-279G>A | |
| XM_011534045.1:c.-12+12G>A | XP_011532347.1:n.-12+12G>A | |
| XM_011534045.3:c.-12+12G>A | XP_011532347.1:n.-12+12G>A | |
| NM_003242.6:c.-279G>A MANE Select | NP_003233.4:n.-279G>A |