Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592912T>G , CM000671.2:g.6592912T>G | GRCh38 |
| NC_000009.11:g.6592912T>G , CM000671.1:g.6592912T>G | GRCh37 |
| NC_000009.10:g.6582912T>G | NCBI36 |
| NG_016397.1:g.57781A>C , LRG_643:g.57781A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1340A>C MANE Select | ENSP00000370737.4:p.Lys447Thr | |
| ENST00000639364.1:n.1040A>C | ||
| ENST00000639443.1:n.908A>C | ||
| ENST00000639493.1:n.492A>C | ||
| ENST00000639954.1:n.1048A>C | ||
| ENST00000640592.1:n.1223A>C | ||
| ENST00000640703.1:n.183A>C | ||
| ENST00000321612.6:c.1340A>C | ENSP00000370737.3:p.Lys447Thr | |
| ENST00000463305.1:n.424A>C | ||
| NM_000170.2:c.1340A>C , LRG_643t1:c.1340A>C | NP_000161.2:p.Lys447Thr | |
| NM_000170.3:c.1340A>C MANE Select | NP_000161.2:p.Lys447Thr |