Linked Data
ClinVar Variation Id:
1387239
ClinVar RCV Id:
RCV001881846
dbSNP Id:
rs1011570439
gnomAD v2:
2-233398828-G-A
gnomAD v3:
2-232534118-G-A
gnomAD v4:
2-232534118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534118G>A , CM000664.2:g.232534118G>A | GRCh38 |
| NC_000002.11:g.233398828G>A , CM000664.1:g.233398828G>A | GRCh37 |
| NC_000002.10:g.233107072G>A | NCBI36 |
| NG_008028.1:g.12907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1235G>A MANE Select | ENSP00000258385.3:p.Arg412Lys | |
| ENST00000258385.7:c.1235G>A | ENSP00000258385.3:p.Arg412Lys | |
| ENST00000441621.6:c.*417G>A | ENSP00000408819.2:n.*417G>A | |
| ENST00000446616.1:c.*876G>A | ENSP00000410801.1:n.*876G>A | |
| ENST00000543200.5:c.1190G>A | ENSP00000438380.1:p.Arg397Lys | |
| NM_000751.2:c.1235G>A | NP_000742.1:p.Arg412Lys | |
| NM_001256657.1:c.1190G>A | NP_001243586.1:p.Arg397Lys | |
| NM_001311195.1:c.653G>A | NP_001298124.1:p.Arg218Lys | |
| NM_001311196.1:c.932G>A | NP_001298125.1:p.Arg311Lys | |
| NR_046333.1:c.-4294966316G>A | ||
| NR_046334.1:c.-4294966037G>A | ||
| XM_011510524.1:c.854G>A | XP_011508826.1:p.Arg285Lys | |
| XM_011510524.2:c.854G>A | XP_011508826.1:p.Arg285Lys | |
| NM_000751.3:c.1235G>A MANE Select | NP_000742.1:p.Arg412Lys | |
| NM_001311195.2:c.653G>A | NP_001298124.1:p.Arg218Lys | |
| NM_001311196.2:c.932G>A | NP_001298125.1:p.Arg311Lys | |
| NM_001256657.2:c.1190G>A | NP_001243586.1:p.Arg397Lys |