Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312448G>C , CM000676.2:g.21312448G>C | GRCh38 |
| NC_000014.8:g.21780607G>C , CM000676.1:g.21780607G>C | GRCh37 |
| NC_000014.7:g.20850447G>C | NCBI36 |
| NG_008933.1:g.29472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1093G>C MANE Select | ENSP00000382895.2:p.Glu365Gln | |
| ENST00000400017.6:c.1093G>C | ENSP00000382895.2:p.Glu365Gln | |
| ENST00000556336.5:c.1012G>C | ENSP00000450445.1:p.Glu338Gln | |
| ENST00000557771.5:c.1012G>C | ENSP00000451219.1:p.Glu338Gln | |
| NM_020366.3:c.1093G>C | NP_065099.3:p.Glu365Gln | |
| XM_011536983.1:c.1060G>C | XP_011535285.1:p.Glu354Gln | |
| NM_020366.4:c.1093G>C MANE Select | NP_065099.3:p.Glu365Gln |