Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836260A>C , CM000672.2:g.99836260A>C | GRCh38 |
| NC_000010.10:g.101596017A>C , CM000672.1:g.101596017A>C | GRCh37 |
| NC_000010.9:g.101586007A>C | NCBI36 |
| NG_011798.1:g.58555A>C | |
| NG_011798.2:g.58663A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3584A>C MANE Select | ENSP00000497274.1:p.Lys1195Thr | |
| ENST00000370449.8:c.3584A>C | ENSP00000359478.4:p.Lys1195Thr | |
| NM_000392.4:c.3584A>C | NP_000383.1:p.Lys1195Thr | |
| XM_006717630.2:c.2888A>C | XP_006717693.1:p.Lys963Thr | |
| XR_945604.1:n.3773A>C | ||
| XR_945605.1:n.3775A>C | ||
| NM_000392.5:c.3584A>C MANE Select | NP_000383.2:p.Lys1195Thr | |
| XM_006717630.3:c.2888A>C | XP_006717693.1:p.Lys963Thr | |
| XR_945604.3:n.3827A>C | ||
| XR_945605.3:n.3827A>C |