Linked Data
ClinVar Variation Id:
214533
dbSNP Id:
rs150433001
ExAC:
12:21695522 T / G
gnomAD v2:
12-21695522-T-G
gnomAD v3:
12-21542588-T-G
gnomAD v4:
12-21542588-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21542588T>G , CM000674.2:g.21542588T>G | GRCh38 |
| NC_000012.11:g.21695522T>G , CM000674.1:g.21695522T>G | GRCh37 |
| NC_000012.10:g.21586789T>G | NCBI36 |
| NG_016167.1:g.67260A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.1553A>C MANE Select | ENSP00000261195.2:p.Glu518Ala | |
| ENST00000647960.1:c.*1555A>C | ENSP00000497202.1:n.*1555A>C | |
| ENST00000261195.2:c.1553A>C | ENSP00000261195.2:p.Glu518Ala | |
| NM_021957.3:c.1553A>C | NP_068776.2:p.Glu518Ala | |
| XM_005253352.1:c.1553A>C | XP_005253409.1:p.Glu518Ala | |
| XM_005253354.2:c.1334A>C | XP_005253411.1:p.Glu445Ala | |
| XM_006719062.2:c.1553A>C | XP_006719125.1:p.Glu518Ala | |
| XM_006719063.2:c.1322A>C | XP_006719126.1:p.Glu441Ala | |
| NM_021957.4:c.1553A>C MANE Select | NP_068776.2:p.Glu518Ala | |
| XM_006719063.3:c.1322A>C | XP_006719126.1:p.Glu441Ala | |
| XM_024448960.1:c.1553A>C | XP_024304728.1:p.Glu518Ala |