Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977898C>G , CM000669.2:g.150977898C>G | GRCh38 |
| NC_000007.13:g.150674986C>G , CM000669.1:g.150674986C>G | GRCh37 |
| NC_000007.12:g.150305919C>G | NCBI36 |
| NG_008916.1:g.5029G>C , LRG_288:g.5029G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.16G>C MANE Select | ENSP00000262186.5:p.Gly6Arg | |
| ENST00000262186.9:c.16G>C | ENSP00000262186.5:p.Gly6Arg | |
| ENST00000430723.4:c.-162G>C | ENSP00000387657.4:n.-162G>C | |
| ENST00000532957.5:n.239G>C | ||
| NM_000238.3:c.16G>C , LRG_288t1:c.16G>C | NP_000229.1:p.Gly6Arg | |
| NM_172056.2:c.16G>C , LRG_288t2:c.16G>C | NP_742053.1:p.Gly6Arg | |
| XM_011516186.1:c.16G>C | XP_011514488.1:p.Gly6Arg | |
| XM_011516186.3:c.16G>C | XP_011514488.1:p.Gly6Arg | |
| NM_000238.4:c.16G>C MANE Select | NP_000229.1:p.Gly6Arg |