Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34615054G= , CM000683.2:g.34615054G= | GRCh38 |
| NC_000021.8:g.35987353G= , CM000683.1:g.35987353G= | GRCh37 |
| NC_000021.7:g.34909223G= | NCBI36 |
| NG_007071.1:g.5030C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004414.7:c.-43C= MANE Select | NP_004405.3:n.-43C= |
| ENST00000313806.9:c.-43C= MANE Select | ENSP00000320768.4:n.-43C= |
| NM_004414.6:c.-43C= | NP_004405.3:n.-43C= |
| ENST00000313806.8:c.-43C= | ENSP00000320768.4:n.-43C= |
| ENST00000463276.1:n.30C= | |
| XM_005260929.1:c.-43C= | XP_005260986.1:n.-43C= |
| XM_005260929.2:c.-43C= | XP_005260986.1:n.-43C= |