Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21787498A>C , CM000669.2:g.21787498A>C | GRCh38 |
| NC_000007.13:g.21827116A>C , CM000669.1:g.21827116A>C | GRCh37 |
| NC_000007.12:g.21793641A>C | NCBI36 |
| NG_012886.2:g.249284A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.9839A>C MANE Select | NP_001264044.1:p.Glu3280Ala |
| ENST00000409508.8:c.9839A>C MANE Select | ENSP00000475939.1:p.Glu3280Ala |
| NM_001277115.1:c.9839A>C | NP_001264044.1:p.Glu3280Ala |
| ENST00000328843.10:c.9860A>C | ENSP00000330671.7:p.Glu3287Ala |
| ENST00000409508.7:c.9839A>C | ENSP00000475939.1:p.Glu3280Ala |
| ENST00000620169.4:c.9860A>C | ENSP00000481693.1:p.Glu3287Ala |