Linked Data
COSMIC:
COSM4141558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977877G>C , CM000667.2:g.149977877G>C | GRCh38 |
| NC_000005.9:g.149357440G>C , CM000667.1:g.149357440G>C | GRCh37 |
| NC_000005.8:g.149337633G>C | NCBI36 |
| NG_007147.2:g.18995G>C , LRG_684:g.18995G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.457G>C | ||
| ENST00000286298.5:c.225G>C MANE Select | ENSP00000286298.4:p.Gln75His | |
| ENST00000286298.4:c.225G>C | ENSP00000286298.4:p.Gln75His | |
| NM_000112.3:c.225G>C , LRG_684t1:c.225G>C | NP_000103.2:p.Gln75His | |
| XM_017009191.2:c.225G>C | XP_016864680.1:p.Gln75His | |
| NM_000112.4:c.225G>C MANE Select | NP_000103.2:p.Gln75His |