Linked Data
ClinVar Variation Id:
1304198
ClinVar RCV Id:
RCV001751965
dbSNP Id:
rs1691806503
gnomAD v4:
2-232534119-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534119G>T , CM000664.2:g.232534119G>T | GRCh38 |
| NC_000002.11:g.233398829G>T , CM000664.1:g.233398829G>T | GRCh37 |
| NC_000002.10:g.233107073G>T | NCBI36 |
| NG_008028.1:g.12908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1236G>T MANE Select | ENSP00000258385.3:p.Arg412Ser | |
| ENST00000258385.7:c.1236G>T | ENSP00000258385.3:p.Arg412Ser | |
| ENST00000441621.6:c.*418G>T | ENSP00000408819.2:n.*418G>T | |
| ENST00000446616.1:c.*877G>T | ENSP00000410801.1:n.*877G>T | |
| ENST00000543200.5:c.1191G>T | ENSP00000438380.1:p.Arg397Ser | |
| NM_000751.2:c.1236G>T | NP_000742.1:p.Arg412Ser | |
| NM_001256657.1:c.1191G>T | NP_001243586.1:p.Arg397Ser | |
| NM_001311195.1:c.654G>T | NP_001298124.1:p.Arg218Ser | |
| NM_001311196.1:c.933G>T | NP_001298125.1:p.Arg311Ser | |
| NR_046333.1:c.-4294966315G>T | ||
| NR_046334.1:c.-4294966036G>T | ||
| XM_011510524.1:c.855G>T | XP_011508826.1:p.Arg285Ser | |
| XM_011510524.2:c.855G>T | XP_011508826.1:p.Arg285Ser | |
| NM_000751.3:c.1236G>T MANE Select | NP_000742.1:p.Arg412Ser | |
| NM_001311195.2:c.654G>T | NP_001298124.1:p.Arg218Ser | |
| NM_001311196.2:c.933G>T | NP_001298125.1:p.Arg311Ser | |
| NM_001256657.2:c.1191G>T | NP_001243586.1:p.Arg397Ser |