Linked Data
ClinVar Variation Id:
18370
ClinVar RCV Id:
RCV000020038
dbSNP Id:
rs121909507
gnomAD v2:
2-233399858-C-T
gnomAD v3:
2-232535148-C-T
gnomAD v4:
2-232535148-C-T
PubMed:
PMID:18252226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232535148C>T , CM000664.2:g.232535148C>T | GRCh38 |
| NC_000002.11:g.233399858C>T , CM000664.1:g.233399858C>T | GRCh37 |
| NC_000002.10:g.233108102C>T | NCBI36 |
| NG_008028.1:g.13937C>T | |
| NG_012954.1:g.422C>T | |
| NG_012954.2:g.457C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258385.8:c.1390C>T MANE Select | ENSP00000258385.3:p.Arg464Ter | |
| ENST00000258385.7:c.1390C>T | ENSP00000258385.3:p.Arg464Ter | |
| ENST00000441621.6:c.*572C>T | ENSP00000408819.2:n.*572C>T | |
| ENST00000446616.1:c.*1031C>T | ENSP00000410801.1:n.*1031C>T | |
| ENST00000543200.5:c.1345C>T | ENSP00000438380.1:p.Arg449Ter | |
| NM_000751.2:c.1390C>T | NP_000742.1:p.Arg464Ter | |
| NM_001256657.1:c.1345C>T | NP_001243586.1:p.Arg449Ter | |
| NM_001311195.1:c.808C>T | NP_001298124.1:p.Arg270Ter | |
| NM_001311196.1:c.1087C>T | NP_001298125.1:p.Arg363Ter | |
| NR_046333.1:c.-4294966161C>T | ||
| NR_046334.1:c.-4294965882C>T | ||
| XM_011510524.1:c.1009C>T | XP_011508826.1:p.Arg337Ter | |
| XM_011510524.2:c.1009C>T | XP_011508826.1:p.Arg337Ter | |
| NM_000751.3:c.1390C>T MANE Select | NP_000742.1:p.Arg464Ter | |
| NM_001311195.2:c.808C>T | NP_001298124.1:p.Arg270Ter | |
| NM_001311196.2:c.1087C>T | NP_001298125.1:p.Arg363Ter | |
| NM_001256657.2:c.1345C>T | NP_001243586.1:p.Arg449Ter |