Linked Data
ClinVar Variation Id:
222513
dbSNP Id:
rs869025366
gnomAD v2:
2-203378462-C-T
gnomAD v4:
2-202513739-C-T
COSMIC:
COSM4665875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202513739C>T , CM000664.2:g.202513739C>T | GRCh38 |
| NC_000002.11:g.203378462C>T , CM000664.1:g.203378462C>T | GRCh37 |
| NC_000002.10:g.203086707C>T | NCBI36 |
| NG_009363.1:g.142413C>T , LRG_712:g.142413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.439C>T MANE Select | ENSP00000363708.4:p.Arg147Ter | |
| ENST00000638587.1:c.370C>T | ENSP00000491062.1:p.Arg124Ter | |
| ENST00000374574.2:c.439C>T | ENSP00000363702.2:p.Arg147Ter | |
| ENST00000374580.8:c.439C>T | ENSP00000363708.4:p.Arg147Ter | |
| NM_001204.6:c.439C>T , LRG_712t1:c.439C>T | NP_001195.2:p.Arg147Ter | |
| XM_011511687.1:c.439C>T | XP_011509989.1:p.Arg147Ter | |
| XM_011511688.1:c.439C>T | XP_011509990.1:p.Arg147Ter | |
| NM_001204.7:c.439C>T MANE Select | NP_001195.2:p.Arg147Ter |