Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52020914T>C , CM000666.2:g.52020914T>C | GRCh38 |
| NC_000004.11:g.52887080T>C , CM000666.1:g.52887080T>C | GRCh37 |
| NC_000004.10:g.52581837T>C | NCBI36 |
| NG_008891.1:g.22406A>G , LRG_204:g.22406A>G | |
| NG_053164.1:g.4398A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.*3043A>G MANE Select | NP_000223.1:n.*3043A>G |
| ENST00000381431.10:c.*3043A>G MANE Select | ENSP00000370839.6:n.*3043A>G |
| NM_000232.4:c.*3043A>G , LRG_204t1:c.*3043A>G | NP_000223.1:n.*3043A>G |
| ENST00000381431.9:c.*3043A>G | ENSP00000370839.5:n.*3043A>G |
| XM_006714049.2:c.*3043A>G | XP_006714112.1:n.*3043A>G |
| XM_011534403.1:c.*3043A>G | XP_011532705.1:n.*3043A>G |
| XM_011534404.1:c.*3043A>G | XP_011532706.1:n.*3043A>G |