Linked Data
ClinVar Variation Id:
390504
dbSNP Id:
rs201028172
ExAC:
2:73800415 G / C
gnomAD v2:
2-73800415-G-C
gnomAD v3:
2-73573288-G-C
gnomAD v4:
2-73573288-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73573288G>C , CM000664.2:g.73573288G>C | GRCh38 |
| NC_000002.11:g.73800415G>C , CM000664.1:g.73800415G>C | GRCh37 |
| NC_000002.10:g.73653923G>C | NCBI36 |
| NG_011690.1:g.192536G>C , LRG_741:g.192536G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11030G>C | ENSP00000507671.1:p.Arg3677Thr | |
| ENST00000682801.1:c.11030G>C | ENSP00000507862.1:p.Arg3677Thr | |
| ENST00000682859.1:c.11030G>C | ENSP00000508222.1:p.Arg3677Thr | |
| ENST00000683791.1:c.4116G>C | ||
| ENST00000684460.1:c.8311G>C | ||
| ENST00000684548.1:c.11030G>C | ENSP00000507421.1:p.Arg3677Thr | |
| ENST00000684590.1:c.5477G>C | ENSP00000507376.1:p.Arg1826Thr | |
| ENST00000684656.1:c.8356G>C | ||
| ENST00000613296.6:c.11411G>C MANE Select | ENSP00000482968.1:p.Arg3804Thr | |
| ENST00000651057.1:c.1565G>C | ENSP00000498504.1:p.Arg522Thr | |
| ENST00000651434.1:c.2767G>C | ||
| ENST00000651750.1:c.799G>C | ||
| ENST00000652487.1:c.2508G>C | ||
| ENST00000423048.5:c.4902G>C | ENSP00000399833.1:n.4902G>C | |
| ENST00000484298.5:c.11285G>C | ENSP00000478155.1:p.Arg3762Thr | |
| ENST00000613296.4:c.11411G>C | ENSP00000482968.1:p.Arg3804Thr | |
| ENST00000614410.4:c.11411G>C | ENSP00000479094.1:p.Arg3804Thr | |
| ENST00000620466.4:n.5214G>C | ||
| NM_015120.4:c.11414G>C , LRG_741t1:c.11414G>C | NP_055935.4:p.Arg3805Thr | |
| NM_001378454.1:c.11411G>C MANE Select | NP_001365383.1:p.Arg3804Thr |