Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162965T>G , CM000677.2:g.64162965T>G | GRCh38 |
| NC_000015.9:g.64455164T>G , CM000677.1:g.64455164T>G | GRCh37 |
| NC_000015.8:g.62242217T>G | NCBI36 |
| NG_012979.1:g.5191A>C , LRG_10:g.5191A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.22A>C MANE Select | ENSP00000300026.4:p.Asn8His | |
| ENST00000561048.2:n.55A>C | ||
| ENST00000680158.1:c.22A>C | ENSP00000504873.1:p.Asn8His | |
| ENST00000681397.1:c.22A>C | ENSP00000506584.1:p.Asn8His | |
| ENST00000681658.1:c.22A>C | ENSP00000505431.1:p.Asn8His | |
| ENST00000300026.3:c.22A>C | ENSP00000300026.3:p.Asn8His | |
| ENST00000558492.1:n.42A>C | ||
| ENST00000561048.1:n.57A>C | ||
| NM_000942.4:c.22A>C , LRG_10t1:c.22A>C | NP_000933.1:p.Asn8His | |
| NM_000942.5:c.22A>C MANE Select | NP_000933.1:p.Asn8His |