Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215780017C>A , CM000663.2:g.215780017C>A | GRCh38 |
| NC_000001.10:g.215953359C>A , CM000663.1:g.215953359C>A | GRCh37 |
| NC_000001.9:g.214019982C>A | NCBI36 |
| NG_009497.1:g.648380G>T | |
| NG_009497.2:g.648432G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10765G>T MANE Select | ENSP00000305941.3:p.Val3589Phe | |
| ENST00000674083.1:c.10765G>T | ENSP00000501296.1:p.Val3589Phe | |
| ENST00000307340.7:c.10765G>T | ENSP00000305941.3:p.Val3589Phe | |
| NM_206933.2:c.10765G>T | NP_996816.2:p.Val3589Phe | |
| NM_206933.3:c.10765G>T | NP_996816.2:p.Val3589Phe | |
| NM_206933.4:c.10765G>T MANE Select | NP_996816.3:p.Val3589Phe |