Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826593A>G , CM000681.2:g.35826593A>G | GRCh38 |
| NC_000019.9:g.36317495A>G , CM000681.1:g.36317495A>G | GRCh37 |
| NC_000019.8:g.41009335A>G | NCBI36 |
| NG_013356.2:g.47695T>C , LRG_693:g.47695T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3647T>C MANE Select | ENSP00000368190.4:p.Ile1216Thr | |
| ENST00000353632.6:c.3527T>C | ENSP00000343634.5:p.Ile1176Thr | |
| ENST00000378910.9:c.3647T>C | ENSP00000368190.4:p.Ile1216Thr | |
| NM_004646.3:c.3647T>C , LRG_693t1:c.3647T>C | NP_004637.1:p.Ile1216Thr | |
| NM_004646.4:c.3647T>C MANE Select | NP_004637.1:p.Ile1216Thr |