Linked Data
ClinVar Variation Id:
30908
ClinVar RCV Id:
RCV000023895
RCV000255081
RCV000623916
RCV001420319
RCV002273937
RCV003407357
RCV003988823
dbSNP Id:
rs199469464
gnomAD v4:
16-30737370-C-T
COSMIC:
COSM4752031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737370C>T , CM000678.2:g.30737370C>T | GRCh38 |
| NC_000016.9:g.30748691C>T , CM000678.1:g.30748691C>T | GRCh37 |
| NC_000016.8:g.30656192C>T | NCBI36 |
| NG_032135.1:g.43230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.7330C>T | ENSP00000405186.3:p.Arg2444Ter | |
| ENST00000704023.1:c.1593+17C>T | ||
| ENST00000706321.1:c.7330C>T | ENSP00000516346.1:p.Arg2444Ter | |
| ENST00000262518.9:c.7330C>T MANE Select | ENSP00000262518.4:p.Arg2444Ter | |
| ENST00000262518.8:c.7330C>T | ENSP00000262518.4:p.Arg2444Ter | |
| ENST00000380361.7:c.6799C>T | ENSP00000369719.3:p.Arg2267Ter | |
| ENST00000395059.6:c.6553C>T | ENSP00000378499.3:p.Arg2185Ter | |
| NM_006662.2:c.7330C>T | NP_006653.2:p.Arg2444Ter | |
| NM_006662.3:c.7330C>T MANE Select | NP_006653.2:p.Arg2444Ter |