Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14769167C>A , CM000667.2:g.14769167C>A | GRCh38 |
| NC_000005.9:g.14769276C>A , CM000667.1:g.14769276C>A | GRCh37 |
| NC_000005.8:g.14822276C>A | NCBI36 |
| NG_008273.1:g.107612G>T | |
| NG_008273.2:g.107619G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.121G>T MANE Select | ENSP00000284268.6:p.Val41Phe | |
| ENST00000284268.6:c.121G>T | ENSP00000284268.6:p.Val41Phe | |
| ENST00000503389.1:n.127G>T | ||
| ENST00000513115.1:n.146G>T | ||
| NM_054027.4:c.121G>T | NP_473368.1:p.Val41Phe | |
| XM_011514067.1:c.121G>T | XP_011512369.1:p.Val41Phe | |
| NM_054027.5:c.121G>T | NP_473368.1:p.Val41Phe | |
| XM_017009644.2:c.37G>T | XP_016865133.1:p.Val13Phe | |
| NM_054027.6:c.121G>T MANE Select | NP_473368.1:p.Val41Phe |