Linked Data
ClinVar Variation Id:
1896681
ClinVar RCV Id:
RCV002575922
dbSNP Id:
rs755292125
ExAC:
2:73717216 G / A
gnomAD v2:
2-73717216-G-A
gnomAD v4:
2-73490089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490089G>A , CM000664.2:g.73490089G>A | GRCh38 |
| NC_000002.11:g.73717216G>A , CM000664.1:g.73717216G>A | GRCh37 |
| NC_000002.10:g.73570724G>A | NCBI36 |
| NG_011690.1:g.109337G>A , LRG_741:g.109337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7749G>A | ENSP00000507671.1:p.Lys2583= | |
| ENST00000682801.1:c.7749G>A | ENSP00000507862.1:p.Lys2583= | |
| ENST00000682859.1:c.7749G>A | ENSP00000508222.1:p.Lys2583= | |
| ENST00000683791.1:c.1141G>A | ||
| ENST00000684460.1:c.5201G>A | ||
| ENST00000684548.1:c.7749G>A | ENSP00000507421.1:p.Lys2583= | |
| ENST00000684590.1:c.2196G>A | ENSP00000507376.1:p.Lys732= | |
| ENST00000684656.1:c.5201G>A | ||
| ENST00000613296.6:c.8130G>A MANE Select | ENSP00000482968.1:p.Lys2710= | |
| ENST00000651434.1:c.896-29686G>A | ||
| ENST00000423048.5:c.2961G>A | ENSP00000399833.1:p.Lys987= | |
| ENST00000484298.5:c.8004G>A | ENSP00000478155.1:p.Lys2668= | |
| ENST00000613296.4:c.8130G>A | ENSP00000482968.1:p.Lys2710= | |
| ENST00000614410.4:c.8130G>A | ENSP00000479094.1:p.Lys2710= | |
| ENST00000620466.4:n.1933G>A | ||
| NM_015120.4:c.8133G>A , LRG_741t1:c.8133G>A | NP_055935.4:p.Lys2711= | |
| NM_001378454.1:c.8130G>A MANE Select | NP_001365383.1:p.Lys2710= |