Linked Data
ClinVar Variation Id:
161109
ClinVar RCV Id:
RCV002515995
dbSNP Id:
rs606231417
PubMed:
PMID:25213377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203870627C>T , CM000664.2:g.203870627C>T | GRCh38 |
| NC_000002.11:g.204735350C>T , CM000664.1:g.204735350C>T | GRCh37 |
| NC_000002.10:g.204443595C>T | NCBI36 |
| NG_011502.1:g.7842C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696049.1:c.151C>T | ENSP00000512353.1:p.Arg51Ter | |
| ENST00000696479.1:c.223C>T | ENSP00000512655.1:p.Arg75Ter | |
| ENST00000427473.3:n.185C>T | ||
| ENST00000648405.2:c.151C>T MANE Select | ENSP00000497102.1:p.Arg51Ter | |
| ENST00000650075.1:n.175C>T | ||
| ENST00000295854.10:c.151C>T | ENSP00000295854.6:p.Arg51Ter | |
| ENST00000302823.7:c.151C>T | ENSP00000303939.3:p.Arg51Ter | |
| ENST00000427473.2:c.40C>T | ENSP00000409707.2:p.Arg14Ter | |
| ENST00000472206.1:c.151C>T | ENSP00000417779.1:p.Arg51Ter | |
| ENST00000487393.1:n.110-2081C>T | ||
| NM_001037631.2:c.151C>T | NP_001032720.1:p.Arg51Ter | |
| NM_005214.4:c.151C>T | NP_005205.2:p.Arg51Ter | |
| XR_241294.1:n.291C>T | ||
| NM_001037631.3:c.151C>T | NP_001032720.1:p.Arg51Ter | |
| NM_005214.5:c.151C>T MANE Select | NP_005205.2:p.Arg51Ter |