Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41842179C>T , CM000679.2:g.41842179C>T | GRCh38 |
| NC_000017.10:g.39998431C>T , CM000679.1:g.39998431C>T | GRCh37 |
| NC_000017.9:g.37251957C>T | NCBI36 |
| NG_051246.1:g.11495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293303.5:c.551C>T MANE Select | ENSP00000293303.4:p.Thr184Ile | |
| ENST00000293303.4:c.551C>T | ENSP00000293303.4:p.Thr184Ile | |
| NM_152467.3:c.551C>T | NP_689680.2:p.Thr184Ile | |
| XM_011524706.1:c.551C>T | XP_011523008.1:p.Thr184Ile | |
| NM_001329595.1:c.551C>T | NP_001316524.1:p.Thr184Ile | |
| NM_001329596.1:c.287C>T | NP_001316525.1:p.Thr96Ile | |
| NM_152467.4:c.551C>T | NP_689680.2:p.Thr184Ile | |
| NM_001329596.2:c.287C>T | NP_001316525.1:p.Thr96Ile | |
| NM_152467.5:c.551C>T MANE Select | NP_689680.2:p.Thr184Ile |