Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919859G>C , CM000678.2:g.89919859G>C | GRCh38 |
| NC_000016.9:g.89986267G>C , CM000678.1:g.89986267G>C | GRCh37 |
| NC_000016.8:g.88513768G>C | NCBI36 |
| NG_012026.1:g.6981G>C | |
| NG_027810.1:g.2851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.601G>C MANE Select | ENSP00000451605.1:p.Val201Leu | |
| ENST00000639847.1:c.601G>C | ENSP00000492011.1:p.Val201Leu | |
| ENST00000555147.1:c.601G>C | ENSP00000451605.1:p.Val201Leu | |
| ENST00000555427.1:c.601G>C | ENSP00000451760.1:p.Val201Leu | |
| ENST00000556922.1:c.601G>C | ENSP00000451560.1:p.Val201Leu | |
| NM_002386.3:c.601G>C | NP_002377.4:p.Val201Leu | |
| NM_002386.4:c.601G>C MANE Select | NP_002377.4:p.Val201Leu |