Linked Data
ClinVar Variation Id:
1998044
ClinVar RCV Id:
RCV002810171
dbSNP Id:
rs1908992305
gnomAD v4:
16-81315280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315280G>A , CM000678.2:g.81315280G>A | GRCh38 |
| NC_000016.9:g.81348885G>A , CM000678.1:g.81348885G>A | GRCh37 |
| NC_000016.8:g.79906386G>A | NCBI36 |
| NG_009007.1:g.5315G>A , LRG_242:g.5315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.167G>A | ENSP00000498114.1:p.Arg56Lys | |
| ENST00000648994.2:c.167G>A MANE Select | ENSP00000497351.1:p.Arg56Lys | |
| ENST00000650388.1:c.167G>A | ENSP00000498081.1:p.Arg56Lys | |
| ENST00000674788.1:n.292G>A | ||
| ENST00000568107.2:c.167G>A | ENSP00000476795.1:p.Arg56Lys | |
| NM_022041.3:c.167G>A , LRG_242t1:c.167G>A | NP_071324.1:p.Arg56Lys | |
| XM_017023734.1:c.-358G>A | XP_016879223.1:n.-358G>A | |
| NM_001377486.1:c.-358G>A | NP_001364415.1:n.-358G>A | |
| NM_022041.4:c.167G>A MANE Select | NP_071324.1:p.Arg56Lys |