Linked Data
ClinVar Variation Id:
375305
ClinVar RCV Id:
RCV000416320
dbSNP Id:
rs1057519338
PubMed:
PMID:29174631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110264571G>A , CM000685.2:g.110264571G>A | GRCh38 |
| NC_000023.10:g.109507799G>A , CM000685.1:g.109507799G>A | GRCh37 |
| NC_000023.9:g.109394455G>A | NCBI36 |
| NG_016469.1:g.180663C>T | |
| NG_016469.2:g.180663C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686065.1:c.502C>T | ENSP00000509935.1:p.Arg168Ter | |
| ENST00000262844.10:c.502C>T MANE Select | ENSP00000262844.5:p.Arg168Ter | |
| ENST00000680410.1:n.469C>T | ||
| ENST00000262844.9:c.502C>T | ENSP00000262844.5:p.Arg168Ter | |
| ENST00000372057.1:c.133C>T | ENSP00000361127.1:p.Arg45Ter | |
| ENST00000372059.6:c.474-47939C>T | ENSP00000361129.2:n.474-47939C>T | |
| ENST00000473662.1:n.202C>T | ||
| NM_001025580.1:c.474-47939C>T | NP_001020751.1:n.474-47939C>T | |
| NM_001171689.1:c.133C>T | NP_001165160.1:p.Arg45Ter | |
| NM_015365.2:c.502C>T | NP_056180.1:p.Arg168Ter | |
| NM_015365.3:c.502C>T MANE Select | NP_056180.1:p.Arg168Ter | |
| NM_001025580.2:c.474-47939C>T | NP_001020751.1:n.474-47939C>T | |
| NM_001171689.2:c.133C>T | NP_001165160.1:p.Arg45Ter |