Linked Data
ClinVar Variation Id:
260287
dbSNP Id:
rs749730219
ExAC:
3:49759704 C / T
gnomAD v2:
3-49759704-C-T
gnomAD v3:
3-49722271-C-T
gnomAD v4:
3-49722271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49722271C>T , CM000665.2:g.49722271C>T | GRCh38 |
| NC_000003.11:g.49759704C>T , CM000665.1:g.49759704C>T | GRCh37 |
| NC_000003.10:g.49734708C>T | NCBI36 |
| NG_011603.1:g.37715C>T | |
| NG_033731.1:g.6704G>A | |
| NG_033731.2:g.6704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.728G>A MANE Select | ENSP00000311130.6:p.Arg243Gln | |
| ENST00000481959.2:n.1301G>A | ||
| ENST00000495627.2:c.836G>A | ENSP00000503768.1:p.Arg279Gln | |
| ENST00000677393.1:c.562-124G>A | ENSP00000503880.1:n.562-124G>A | |
| ENST00000678010.1:c.403-124G>A | ENSP00000503176.1:n.403-124G>A | |
| ENST00000678208.1:n.1162G>A | ||
| ENST00000678853.1:c.*19G>A | ENSP00000504692.1:n.*19G>A | |
| ENST00000308375.10:c.728G>A | ENSP00000309092.6:p.Arg243Gln | |
| ENST00000308388.6:c.728G>A | ENSP00000311130.6:p.Arg243Gln | |
| ENST00000480687.5:c.728G>A | ENSP00000418565.1:p.Arg243Gln | |
| NM_013334.3:c.728G>A | NP_037466.2:p.Arg243Gln | |
| NM_021971.2:c.728G>A | NP_068806.1:p.Arg243Gln | |
| NM_021971.4:c.728G>A MANE Select | NP_068806.2:p.Arg243Gln | |
| NM_013334.4:c.728G>A | NP_037466.3:p.Arg243Gln |