Linked Data
ClinVar Variation Id:
12629
ClinVar RCV Id:
RCV000420800
dbSNP Id:
rs121913457
COSMIC:
COSM12578
PubMed:
PMID:11964322
PMID:12130516
PMID:12399961
PMID:12623848
PMID:12783380
PMID:14745431
PMID:15381060
PMID:17189410
PMID:19557636
PMID:20557306
PMID:20607847
PMID:23355941
PMID:23676790
PMID:25157968
CIViC:
CA122590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130873004T>C , CM000671.2:g.130873004T>C | GRCh38 |
| NC_000009.11:g.133748391T>C , CM000671.1:g.133748391T>C | GRCh37 |
| NC_000009.10:g.132738212T>C | NCBI36 |
| NG_012034.1:g.164124T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1109T>C | ENSP00000361423.2:p.Met370Thr | |
| ENST00000318560.6:c.1052T>C MANE Select | ENSP00000323315.5:p.Met351Thr | |
| ENST00000372348.7:c.1109T>C | ENSP00000361423.2:p.Met370Thr | |
| ENST00000318560.5:c.1052T>C | ENSP00000323315.5:p.Met351Thr | |
| ENST00000372348.6:c.1109T>C | ENSP00000361423.2:p.Met370Thr | |
| NM_005157.5:c.1052T>C | NP_005148.2:p.Met351Thr | |
| NM_007313.2:c.1109T>C | NP_009297.2:p.Met370Thr | |
| NM_005157.6:c.1052T>C MANE Select | NP_005148.2:p.Met351Thr | |
| NM_007313.3:c.1109T>C | NP_009297.2:p.Met370Thr |