Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199016G>A , CM000671.2:g.137199016G>A | GRCh38 |
| NC_000009.11:g.140093468G>A , CM000671.1:g.140093468G>A | GRCh37 |
| NC_000009.10:g.139213289G>A | NCBI36 |
| NG_027801.1:g.6696C>T | |
| NG_027801.2:g.10178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1696C>T MANE Select | ENSP00000387100.4:p.Leu566Phe | |
| ENST00000333046.8:c.1090C>T | ENSP00000327617.4:p.Leu364Phe | |
| ENST00000409012.4:c.1696C>T | ENSP00000387100.4:p.Leu566Phe | |
| ENST00000541945.1:n.90+5088C>T | ||
| NM_001128228.2:c.1696C>T | NP_001121700.2:p.Leu566Phe | |
| NM_001128228.3:c.1696C>T MANE Select | NP_001121700.2:p.Leu566Phe |