Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93207017G>T , CM000676.2:g.93207017G>T | GRCh38 |
| NC_000014.8:g.93673362G>T , CM000676.1:g.93673362G>T | GRCh37 |
| NC_000014.7:g.92743115G>T | NCBI36 |
| NG_051089.1:g.4962G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032490.5:c.21C>A MANE Select | NP_115879.2:p.Tyr7Ter |
| ENST00000306954.5:c.21C>A MANE Select | ENSP00000306320.4:p.Tyr7Ter |
| NM_032490.4:c.21C>A | NP_115879.2:p.Tyr7Ter |
| ENST00000306954.4:c.21C>A | ENSP00000306320.4:p.Tyr7Ter |
| ENST00000554824.5:c.*61-2807G>T | ENSP00000451352.1:n.*61-2807G>T |
| ENST00000556566.1:c.13C>A | |
| ENST00000557048.1:n.60-2807G>T | |
| ENST00000557574.1:c.208-2807G>T | ENSP00000451369.1:n.208-2807G>T |