Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2756254C>A , CM000666.2:g.2756254C>A | GRCh38 |
| NC_000004.11:g.2757981C>A , CM000666.1:g.2757981C>A | GRCh37 |
| NC_000004.10:g.2727779C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024309.4:c.36G>T MANE Select | NP_077285.3:p.Glu12Asp |
| ENST00000315423.12:c.36G>T MANE Select | ENSP00000321203.7:p.Glu12Asp |
| NM_001161527.2:c.-351G>T | NP_001154999.1:n.-351G>T |
| NM_001292016.1:c.36G>T | NP_001278945.1:p.Glu12Asp |
| NM_001292016.2:c.36G>T | NP_001278945.1:p.Glu12Asp |
| NM_024309.3:c.36G>T | NP_077285.3:p.Glu12Asp |
| ENST00000315423.11:c.36G>T | ENSP00000321203.7:p.Glu12Asp |
| ENST00000503235.1:c.36G>T | ENSP00000426314.1:p.Glu12Asp |
| ENST00000510267.5:c.-351G>T | ENSP00000427613.1:n.-351G>T |