Linked Data
ClinVar Variation Id:
200855
dbSNP Id:
rs794728535
gnomAD v3:
11-2776986-G-T
gnomAD v4:
11-2776986-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776986G>T , CM000673.2:g.2776986G>T | GRCh38 |
| NC_000011.9:g.2798216G>T , CM000673.1:g.2798216G>T | GRCh37 |
| NC_000011.8:g.2754792G>T | NCBI36 |
| NG_008935.1:g.336996G>T , LRG_287:g.336996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1329G>T | ENSP00000434560.2:p.Arg443Ser | |
| ENST00000646564.2:c.1146G>T | ENSP00000495806.2:p.Arg382Ser | |
| ENST00000155840.12:c.1686G>T MANE Select | ENSP00000155840.2:p.Arg562Ser | |
| ENST00000335475.6:c.1305G>T | ENSP00000334497.5:p.Arg435Ser | |
| ENST00000646564.1:c.792G>T | ENSP00000495806.1:p.Arg264Ser | |
| ENST00000155840.9:c.1686G>T | ENSP00000155840.2:p.Arg562Ser | |
| ENST00000335475.5:c.1305G>T | ENSP00000334497.5:p.Arg435Ser | |
| NM_000218.2:c.1686G>T , LRG_287t1:c.1686G>T | NP_000209.2:p.Arg562Ser | |
| NM_181798.1:c.1305G>T , LRG_287t2:c.1305G>T | NP_861463.1:p.Arg435Ser | |
| NM_000218.3:c.1686G>T MANE Select | NP_000209.2:p.Arg562Ser |