Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564747C>G , CM000684.2:g.36564747C>G | GRCh38 |
| NC_000022.10:g.36960794C>G , CM000684.1:g.36960794C>G | GRCh37 |
| NC_000022.9:g.35290740C>G | NCBI36 |
| NG_031861.1:g.142897G>C | |
| NG_031861.2:g.143112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.576G>C MANE Select | ENSP00000300105.6:p.Met192Ile | |
| ENST00000300105.6:c.576G>C | ENSP00000300105.6:p.Met192Ile | |
| NM_006078.3:c.576G>C | NP_006069.1:p.Met192Ile | |
| NM_006078.4:c.576G>C | NP_006069.1:p.Met192Ile | |
| XM_017028531.2:c.318G>C | XP_016884020.1:p.Met106Ile | |
| NM_001379051.1:c.507G>C | NP_001365980.1:p.Met169Ile | |
| NM_006078.5:c.576G>C MANE Select | NP_006069.1:p.Met192Ile | |
| NR_166440.1:n.1942G>C |