Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978554A>G , CM000674.2:g.120978554A>G | GRCh38 |
| NC_000012.11:g.121416357A>G , CM000674.1:g.121416357A>G | GRCh37 |
| NC_000012.10:g.119900740A>G | NCBI36 |
| NG_011731.2:g.4809A>G , LRG_522:g.4809A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257555.11:c.-215A>G MANE Select | ENSP00000257555.5:n.-215A>G | |
| ENST00000257555.10:c.-215A>G | ENSP00000257555.4:n.-215A>G | |
| XM_005253931.2:c.-215A>G | XP_005253988.1:n.-215A>G | |
| XM_024449168.1:c.-215A>G | XP_024304936.1:n.-215A>G | |
| NM_000545.8:c.-215A>G MANE Select | NP_000536.6:n.-215A>G | |
| NM_001306179.2:c.-215A>G | NP_001293108.2:n.-215A>G |