Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062894C>A , CM000664.2:g.189062894C>A | GRCh38 |
| NC_000002.11:g.189927620C>A , CM000664.1:g.189927620C>A | GRCh37 |
| NC_000002.10:g.189635865C>A | NCBI36 |
| NG_011799.1:g.121986G>T | |
| NG_011799.2:g.121986G>T | |
| NG_011799.3:g.167408G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1948G>T MANE Select | ENSP00000364000.3:p.Val650Phe | |
| ENST00000374866.7:c.1948G>T | ENSP00000364000.3:p.Val650Phe | |
| ENST00000470524.2:n.54G>T | ||
| ENST00000618828.1:c.787G>T | ENSP00000482184.1:p.Val263Phe | |
| NM_000393.3:c.1948G>T | NP_000384.2:p.Val650Phe | |
| XM_011510573.1:c.1810G>T | XP_011508875.1:p.Val604Phe | |
| NM_000393.4:c.1948G>T | NP_000384.2:p.Val650Phe | |
| XM_011510573.3:c.1810G>T | XP_011508875.1:p.Val604Phe | |
| NM_000393.5:c.1948G>T MANE Select | NP_000384.2:p.Val650Phe |