Linked Data
ClinVar Variation Id:
485560
dbSNP Id:
rs1319755767
gnomAD v2:
1-241682925-A-C
gnomAD v4:
1-241519625-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241519625A>C , CM000663.2:g.241519625A>C | GRCh38 |
| NC_000001.10:g.241682925A>C , CM000663.1:g.241682925A>C | GRCh37 |
| NC_000001.9:g.239749548A>C | NCBI36 |
| NG_012338.1:g.5130T>G , LRG_504:g.5130T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.70T>G | ||
| ENST00000682162.1:c.98T>G | ENSP00000508203.1:p.Val33Gly | |
| ENST00000682567.1:n.175T>G | ||
| ENST00000683521.1:c.98T>G | ENSP00000506864.1:p.Val33Gly | |
| ENST00000684483.1:c.98T>G | ENSP00000507894.1:p.Val33Gly | |
| ENST00000366560.4:c.98T>G MANE Select | ENSP00000355518.4:p.Val33Gly | |
| ENST00000366560.3:c.98T>G | ENSP00000355518.3:p.Val33Gly | |
| NM_000143.3:c.98T>G , LRG_504t1:c.98T>G | NP_000134.2:p.Val33Gly | |
| XM_011544132.2:c.-662T>G | XP_011542434.1:n.-662T>G | |
| NM_000143.4:c.98T>G MANE Select | NP_000134.2:p.Val33Gly |