Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833839A>C , CM000686.2:g.12833839A>C | GRCh38 |
| NC_000024.9:g.14945765A>C , CM000686.1:g.14945765A>C | GRCh37 |
| NC_000024.8:g.13455159A>C | NCBI36 |
| NG_008311.1:g.137606A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.5173A>C | ENSP00000498372.1:p.Ile1725Leu | |
| ENST00000338981.7:c.5173A>C MANE Select | ENSP00000342812.3:p.Ile1725Leu | |
| ENST00000426564.6:n.5185A>C | ||
| NM_004654.3:c.5173A>C | NP_004645.2:p.Ile1725Leu | |
| XM_011531469.1:c.5173A>C | XP_011529771.1:p.Ile1725Leu | |
| XM_011531470.1:c.4939A>C | XP_011529772.1:p.Ile1647Leu | |
| XM_017030078.2:c.5188A>C | XP_016885567.1:p.Ile1730Leu | |
| NM_004654.4:c.5173A>C MANE Select | NP_004645.2:p.Ile1725Leu |