Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983382A>C , CM000678.2:g.56983382A>C | GRCh38 |
| NC_000016.9:g.57017294A>C , CM000678.1:g.57017294A>C | GRCh37 |
| NC_000016.8:g.55574795A>C | NCBI36 |
| NG_008952.1:g.26460A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.1378A>C MANE Select | ENSP00000200676.3:p.Ile460Leu | |
| ENST00000650358.1:n.1776A>C | ||
| ENST00000200676.7:c.1378A>C | ENSP00000200676.3:p.Ile460Leu | |
| ENST00000379780.6:c.1198A>C | ENSP00000369106.2:p.Ile400Leu | |
| ENST00000566128.1:c.1183A>C | ENSP00000456276.1:p.Ile395Leu | |
| NM_000078.2:c.1378A>C | NP_000069.2:p.Ile460Leu | |
| NM_001286085.1:c.1198A>C | NP_001273014.1:p.Ile400Leu | |
| NM_000078.3:c.1378A>C MANE Select | NP_000069.2:p.Ile460Leu | |
| NM_001286085.2:c.1198A>C | NP_001273014.1:p.Ile400Leu |