Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162887C>G , CM000677.2:g.64162887C>G | GRCh38 |
| NC_000015.9:g.64455086C>G , CM000677.1:g.64455086C>G | GRCh37 |
| NC_000015.8:g.62242139C>G | NCBI36 |
| NG_012979.1:g.5269G>C , LRG_10:g.5269G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.100G>C MANE Select | ENSP00000300026.4:p.Asp34His | |
| ENST00000561048.2:n.133G>C | ||
| ENST00000680158.1:c.100G>C | ENSP00000504873.1:p.Asp34His | |
| ENST00000681397.1:c.100G>C | ENSP00000506584.1:p.Asp34His | |
| ENST00000681658.1:c.30+70G>C | ENSP00000505431.1:n.30+70G>C | |
| ENST00000300026.3:c.100G>C | ENSP00000300026.3:p.Asp34His | |
| ENST00000558492.1:n.120G>C | ||
| ENST00000561048.1:n.135G>C | ||
| NM_000942.4:c.100G>C , LRG_10t1:c.100G>C | NP_000933.1:p.Asp34His | |
| NM_000942.5:c.100G>C MANE Select | NP_000933.1:p.Asp34His |