Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414060G>T , CM000665.2:g.119414060G>T | GRCh38 |
| NC_000003.11:g.119132907G>T , CM000665.1:g.119132907G>T | GRCh37 |
| NC_000003.10:g.120615597G>T | NCBI36 |
| NG_007665.2:g.124688G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2131G>T MANE Select | ENSP00000264245.4:p.Val711Phe | |
| ENST00000264245.8:c.2131G>T | ENSP00000264245.4:p.Val711Phe | |
| NM_020754.3:c.2131G>T | NP_065805.2:p.Val711Phe | |
| XM_005247671.3:c.2038G>T | XP_005247728.1:p.Val680Phe | |
| XM_006713714.2:c.2071G>T | XP_006713777.1:p.Val691Phe | |
| XM_006713714.3:c.2071G>T | XP_006713777.1:p.Val691Phe | |
| XM_017006955.1:c.1639G>T | XP_016862444.1:p.Val547Phe | |
| NM_020754.4:c.2131G>T MANE Select | NP_065805.2:p.Val711Phe |