Linked Data
COSMIC:
COSM472785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612263G>C , CM000679.2:g.41612263G>C | GRCh38 |
| NC_000017.10:g.39768515G>C , CM000679.1:g.39768515G>C | GRCh37 |
| NC_000017.9:g.37022041G>C | NCBI36 |
| NG_008301.1:g.5565C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.426C>G MANE Select | ENSP00000301653.3:p.Asn142Lys | |
| ENST00000301653.8:c.426C>G | ENSP00000301653.3:p.Asn142Lys | |
| ENST00000588319.1:n.503C>G | ||
| ENST00000593067.1:c.-289C>G | ENSP00000467124.1:n.-289C>G | |
| NM_005557.3:c.426C>G | NP_005548.2:p.Asn142Lys | |
| NM_005557.4:c.426C>G MANE Select | NP_005548.2:p.Asn142Lys |