Linked Data
ClinVar Variation Id:
2817965
ClinVar RCV Id:
RCV003749554
dbSNP Id:
rs1386400193
gnomAD v2:
5-139494313-A-G
gnomAD v4:
5-140114728-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114728A>G , CM000667.2:g.140114728A>G | GRCh38 |
| NC_000005.9:g.139494313A>G , CM000667.1:g.139494313A>G | GRCh37 |
| NC_000005.8:g.139474497A>G | NCBI36 |
| NG_041813.1:g.5606A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.547A>G MANE Select | ENSP00000332706.3:p.Thr183Ala | |
| ENST00000651386.1:c.547A>G | ENSP00000499133.1:p.Thr183Ala | |
| ENST00000331327.4:c.547A>G | ENSP00000332706.3:p.Thr183Ala | |
| NM_005859.4:c.547A>G | NP_005850.1:p.Thr183Ala | |
| NM_005859.5:c.547A>G MANE Select | NP_005850.1:p.Thr183Ala |