Linked Data
gnomAD v4:
2-218814736-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814736G>C , CM000664.2:g.218814736G>C | GRCh38 |
| NC_000002.11:g.219679459G>C , CM000664.1:g.219679459G>C | GRCh37 |
| NC_000002.10:g.219387703G>C | NCBI36 |
| NG_007959.1:g.37988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1455G>C MANE Select | ENSP00000258415.4:p.Glu485Asp | |
| ENST00000258415.8:c.1455G>C | ENSP00000258415.4:p.Glu485Asp | |
| ENST00000494263.5:n.2167G>C | ||
| NM_000784.3:c.1455G>C | NP_000775.1:p.Glu485Asp | |
| XM_017003488.2:c.1035G>C | XP_016858977.1:p.Glu345Asp | |
| NM_000784.4:c.1455G>C MANE Select | NP_000775.1:p.Glu485Asp |