Linked Data
COSMIC:
COSM4684995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128845150A>C , CM000669.2:g.128845150A>C | GRCh38 |
| NC_000007.13:g.128485204A>C , CM000669.1:g.128485204A>C | GRCh37 |
| NC_000007.12:g.128272440A>C | NCBI36 |
| NG_011807.1:g.19722A>C , LRG_870:g.19722A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3685A>C MANE Select | ENSP00000327145.8:p.Lys1229Gln | |
| ENST00000325888.12:c.3685A>C | ENSP00000327145.8:p.Lys1229Gln | |
| ENST00000346177.6:c.3685A>C | ENSP00000344002.6:p.Lys1229Gln | |
| NM_001127487.1:c.3685A>C | NP_001120959.1:p.Lys1229Gln | |
| NM_001458.4:c.3685A>C , LRG_870t1:c.3685A>C | NP_001449.3:p.Lys1229Gln | |
| NM_001127487.2:c.3685A>C | NP_001120959.1:p.Lys1229Gln | |
| NM_001458.5:c.3685A>C MANE Select | NP_001449.3:p.Lys1229Gln |