Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028923T>C , CM000666.2:g.52028923T>C | GRCh38 |
| NC_000004.11:g.52895089T>C , CM000666.1:g.52895089T>C | GRCh37 |
| NC_000004.10:g.52589846T>C | NCBI36 |
| NG_008891.1:g.14397A>G , LRG_204:g.14397A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.430-2A>G MANE Select | NP_000223.1:n.430-2A>G |
| ENST00000381431.10:c.430-2A>G MANE Select | ENSP00000370839.6:n.430-2A>G |
| NM_000232.4:c.430-2A>G , LRG_204t1:c.430-2A>G | NP_000223.1:n.430-2A>G |
| ENST00000381431.9:c.430-2A>G | ENSP00000370839.5:n.430-2A>G |
| ENST00000506357.5:c.513-2A>G | |
| ENST00000514133.1:c.507-2A>G | ENSP00000425818.1:n.507-2A>G |
| XM_006714049.2:c.133-2A>G | XP_006714112.1:n.133-2A>G |
| XM_011534403.1:c.220-2A>G | XP_011532705.1:n.220-2A>G |
| XM_011534404.1:c.133-2A>G | XP_011532706.1:n.133-2A>G |