Linked Data
ClinVar Variation Id:
993708
ClinVar RCV Id:
RCV001564293
dbSNP Id:
rs143847430
gnomAD v2:
5-149361459-T-G
gnomAD v3:
5-149981896-T-G
gnomAD v4:
5-149981896-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981896T>G , CM000667.2:g.149981896T>G | GRCh38 |
| NC_000005.9:g.149361459T>G , CM000667.1:g.149361459T>G | GRCh37 |
| NC_000005.8:g.149341652T>G | NCBI36 |
| NG_007147.2:g.23014T>G , LRG_684:g.23014T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*83T>G MANE Select | ENSP00000286298.4:n.*83T>G | |
| ENST00000286298.4:c.*83T>G | ENSP00000286298.4:n.*83T>G | |
| ENST00000503336.1:c.372+3545T>G | ENSP00000426053.1:n.372+3545T>G | |
| NM_000112.3:c.*83T>G , LRG_684t1:c.*83T>G | NP_000103.2:n.*83T>G | |
| XM_017009191.2:c.*13-33T>G | XP_016864680.1:n.*13-33T>G | |
| NM_000112.4:c.*83T>G MANE Select | NP_000103.2:n.*83T>G |