Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719681T>G , CM000678.2:g.88719681T>G | GRCh38 |
| NC_000016.9:g.88786089T>G , CM000678.1:g.88786089T>G | GRCh37 |
| NC_000016.8:g.87313590T>G | NCBI36 |
| NG_042229.1:g.70540A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6364A>C MANE Select | ENSP00000301015.9:p.Met2122Leu | |
| ENST00000466823.3:c.390A>C | ||
| ENST00000301015.13:c.6364A>C | ENSP00000301015.9:p.Met2122Leu | |
| ENST00000419505.5:c.130A>C | ENSP00000406358.1:p.Met44Leu | |
| ENST00000466823.2:c.390A>C | ||
| ENST00000495568.7:n.605A>C | ||
| ENST00000497793.2:n.519A>C | ||
| NM_001142864.2:c.6364A>C | NP_001136336.2:p.Met2122Leu | |
| NM_001142864.3:c.6364A>C | NP_001136336.2:p.Met2122Leu | |
| NM_001142864.4:c.6364A>C MANE Select | NP_001136336.2:p.Met2122Leu |