Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658571A>G , CM000668.2:g.24658571A>G | GRCh38 |
| NC_000006.11:g.24658799A>G , CM000668.1:g.24658799A>G | GRCh37 |
| NC_000006.10:g.24766778A>G | NCBI36 |
| NG_052787.1:g.13317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.415T>C MANE Select | ENSP00000367440.4:p.Tyr139His | |
| ENST00000341060.3:c.241T>C | ENSP00000345345.3:p.Tyr81His | |
| ENST00000378198.8:c.415T>C | ENSP00000367440.4:p.Tyr139His | |
| ENST00000478285.1:n.602T>C | ||
| ENST00000478507.1:n.320-5418T>C | ||
| NM_016614.2:c.415T>C | NP_057698.2:p.Tyr139His | |
| XR_926244.1:n.542T>C | ||
| NM_016614.3:c.415T>C MANE Select | NP_057698.2:p.Tyr139His |