Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100817363C>T , CM000669.2:g.100817363C>T | GRCh38 |
| NC_000007.13:g.100414985C>T , CM000669.1:g.100414985C>T | GRCh37 |
| NC_000007.12:g.100252921C>T | NCBI36 |
| NG_052671.1:g.15159G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.1423-6G>A MANE Select | NP_004435.3:n.1423-6G>A |
| ENST00000358173.8:c.1423-6G>A MANE Select | ENSP00000350896.3:n.1423-6G>A |
| NM_004444.4:c.1423-6G>A | NP_004435.3:n.1423-6G>A |
| ENST00000358173.7:c.1423-6G>A | ENSP00000350896.3:n.1423-6G>A |
| ENST00000360620.7:c.1423-6G>A | ENSP00000353833.3:n.1423-6G>A |
| ENST00000477446.5:n.1423-6G>A | |
| ENST00000487222.5:n.2624-6G>A | |
| ENST00000489808.1:n.809-6G>A | |
| ENST00000616502.4:c.809-6G>A | ENSP00000482702.1:n.809-6G>A |
| XM_017011816.1:c.1477-6G>A | XP_016867305.1:n.1477-6G>A |