Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818863T>G , CM000671.2:g.129818863T>G | GRCh38 |
| NC_000009.11:g.132581142T>G , CM000671.1:g.132581142T>G | GRCh37 |
| NC_000009.10:g.131620963T>G | NCBI36 |
| NG_008049.1:g.10300A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.502A>C MANE Select | ENSP00000345719.4:p.Ile168Leu | |
| ENST00000651202.1:c.598A>C | ENSP00000498222.1:p.Ile200Leu | |
| ENST00000351698.4:c.502A>C | ENSP00000345719.4:p.Ile168Leu | |
| ENST00000473604.2:n.612A>C | ||
| NM_000113.2:c.502A>C | NP_000104.1:p.Ile168Leu | |
| XR_929731.1:n.662A>C | ||
| XR_929731.3:n.530A>C | ||
| NM_000113.3:c.502A>C MANE Select | NP_000104.1:p.Ile168Leu |