Linked Data
ClinVar Variation Id:
240993
dbSNP Id:
rs185586839
ExAC:
2:73676959 A / C
gnomAD v2:
2-73676959-A-C
gnomAD v3:
2-73449832-A-C
gnomAD v4:
2-73449832-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73449832A>C , CM000664.2:g.73449832A>C | GRCh38 |
| NC_000002.11:g.73676959A>C , CM000664.1:g.73676959A>C | GRCh37 |
| NC_000002.10:g.73530467A>C | NCBI36 |
| NG_011690.1:g.69080A>C , LRG_741:g.69080A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.2924A>C | ENSP00000507671.1:p.Lys975Thr | |
| ENST00000682801.1:c.2924A>C | ENSP00000507862.1:p.Lys975Thr | |
| ENST00000682859.1:c.2924A>C | ENSP00000508222.1:p.Lys975Thr | |
| ENST00000683791.1:c.685+17541A>C | ||
| ENST00000684460.1:c.376A>C | ||
| ENST00000684548.1:c.2924A>C | ENSP00000507421.1:p.Lys975Thr | |
| ENST00000684656.1:c.376A>C | ||
| ENST00000613296.6:c.3305A>C MANE Select | ENSP00000482968.1:p.Lys1102Thr | |
| ENST00000484298.5:c.3179A>C | ENSP00000478155.1:p.Lys1060Thr | |
| ENST00000613296.4:c.3305A>C | ENSP00000482968.1:p.Lys1102Thr | |
| ENST00000614410.4:c.3305A>C | ENSP00000479094.1:p.Lys1102Thr | |
| NM_015120.4:c.3308A>C , LRG_741t1:c.3308A>C | NP_055935.4:p.Lys1103Thr | |
| NM_001378454.1:c.3305A>C MANE Select | NP_001365383.1:p.Lys1102Thr |