Linked Data
ClinVar Variation Id:
1379846
ClinVar RCV Id:
RCV001886089
dbSNP Id:
rs1223712611
gnomAD v2:
2-73799620-A-C
gnomAD v4:
2-73572493-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572493A>C , CM000664.2:g.73572493A>C | GRCh38 |
| NC_000002.11:g.73799620A>C , CM000664.1:g.73799620A>C | GRCh37 |
| NC_000002.10:g.73653128A>C | NCBI36 |
| NG_011690.1:g.191741A>C , LRG_741:g.191741A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10235A>C | ENSP00000507671.1:p.Lys3412Thr | |
| ENST00000682801.1:c.10235A>C | ENSP00000507862.1:p.Lys3412Thr | |
| ENST00000682859.1:c.10235A>C | ENSP00000508222.1:p.Lys3412Thr | |
| ENST00000683791.1:c.3321A>C | ||
| ENST00000684460.1:c.7516A>C | ||
| ENST00000684548.1:c.10235A>C | ENSP00000507421.1:p.Lys3412Thr | |
| ENST00000684590.1:c.4682A>C | ENSP00000507376.1:p.Lys1561Thr | |
| ENST00000684656.1:c.7561A>C | ||
| ENST00000613296.6:c.10616A>C MANE Select | ENSP00000482968.1:p.Lys3539Thr | |
| ENST00000651057.1:c.770A>C | ENSP00000498504.1:p.Lys257Thr | |
| ENST00000651434.1:c.1972A>C | ||
| ENST00000651750.1:c.4A>C | ||
| ENST00000652487.1:c.1713A>C | ||
| ENST00000423048.5:c.4107A>C | ENSP00000399833.1:n.4107A>C | |
| ENST00000484298.5:c.10490A>C | ENSP00000478155.1:p.Lys3497Thr | |
| ENST00000613296.4:c.10616A>C | ENSP00000482968.1:p.Lys3539Thr | |
| ENST00000614410.4:c.10616A>C | ENSP00000479094.1:p.Lys3539Thr | |
| ENST00000620466.4:n.4419A>C | ||
| NM_015120.4:c.10619A>C , LRG_741t1:c.10619A>C | NP_055935.4:p.Lys3540Thr | |
| NM_001378454.1:c.10616A>C MANE Select | NP_001365383.1:p.Lys3539Thr |