Linked Data
dbSNP Id:
rs771402520
ExAC:
20:741844 G / C
gnomAD v2:
20-741844-G-C
gnomAD v4:
20-761200-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.761200G>C , CM000682.2:g.761200G>C | GRCh38 |
| NC_000020.10:g.741844G>C , CM000682.1:g.741844G>C | GRCh37 |
| NC_000020.9:g.689844G>C | NCBI36 |
| NG_027687.1:g.12385C>G | |
| NG_027687.2:g.19786C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.*450C>G | ENSP00000371370.3:n.*450C>G | |
| ENST00000473664.2:c.730C>G | ENSP00000502741.1:p.Arg244Gly | |
| ENST00000488495.3:c.1236C>G | ENSP00000494009.1:p.Tyr412Ter | |
| ENST00000645534.1:c.1236C>G MANE Select | ENSP00000494193.1:p.Tyr412Ter | |
| ENST00000217254.11:c.1236C>G | ENSP00000217254.7:p.Tyr412Ter | |
| ENST00000381944.4:c.*450C>G | ENSP00000371370.3:n.*450C>G | |
| ENST00000473664.1:n.781C>G | ||
| ENST00000632431.1:c.1236C>G | ENSP00000488723.1:p.Tyr412Ter | |
| NM_033409.3:c.1236C>G | NP_212134.3:p.Tyr412Ter | |
| XM_005260655.3:c.1236C>G | XP_005260712.1:p.Tyr412Ter | |
| XM_011529148.1:c.1236C>G | XP_011527450.1:p.Tyr412Ter | |
| XM_005260655.4:c.1236C>G | XP_005260712.1:p.Tyr412Ter | |
| XM_024451821.1:c.1236C>G | XP_024307589.1:p.Tyr412Ter | |
| NM_033409.4:c.1236C>G MANE Select | NP_212134.3:p.Tyr412Ter | |
| NM_001370085.1:c.1236C>G | NP_001357014.1:p.Tyr412Ter | |
| NM_001370086.1:c.1236C>G | NP_001357015.1:p.Tyr412Ter |