Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061674C= , CM000665.2:g.129061674C= | GRCh38 |
| NC_000003.11:g.128780517C= , CM000665.1:g.128780517C= | GRCh37 |
| NC_000003.10:g.130263207C= | NCBI36 |
| NG_008715.1:g.5873C= , LRG_477:g.5873C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-12-54C= MANE Select | ENSP00000303942.4:n.-12-54C= | |
| ENST00000307395.4:c.-12-54C= | ENSP00000303942.4:n.-12-54C= | |
| NM_000174.4:c.-12-54C= , LRG_477t1:c.-12-54C= | NP_000165.1:n.-12-54C= | |
| XM_005247374.3:c.-12-54C= | XP_005247431.1:n.-12-54C= | |
| XM_011512701.1:c.-12-54C= | XP_011511003.1:n.-12-54C= | |
| XM_011512702.1:c.-12-54C= | XP_011511004.1:n.-12-54C= | |
| NM_000174.5:c.-12-54C= MANE Select | NP_000165.1:n.-12-54C= |