Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524715G>T , CM000680.2:g.31524715G>T | GRCh38 |
| NC_000018.9:g.29104678G>T , CM000680.1:g.29104678G>T | GRCh37 |
| NC_000018.8:g.27358676G>T | NCBI36 |
| NG_007072.3:g.31474G>T , LRG_397:g.31474G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.672G>T | ||
| ENST00000683614.2:n.672G>T | ||
| ENST00000682087.1:c.672G>T | ||
| ENST00000683614.1:c.672G>T | ||
| ENST00000261590.13:c.841G>T MANE Select | ENSP00000261590.8:p.Val281Phe | |
| ENST00000261590.12:c.841G>T | ENSP00000261590.8:p.Val281Phe | |
| NM_001943.3:c.841G>T , LRG_397t1:c.841G>T | NP_001934.2:p.Val281Phe | |
| NM_001943.4:c.841G>T | NP_001934.2:p.Val281Phe | |
| XM_024451095.1:c.307G>T | XP_024306863.1:p.Val103Phe | |
| NM_001943.5:c.841G>T MANE Select | NP_001934.2:p.Val281Phe |