Linked Data
ClinVar Variation Id:
437806
ClinVar RCV Id:
RCV000502946
dbSNP Id:
rs774709441
ExAC:
6:99322275 T / G
gnomAD v2:
6-99322275-T-G
gnomAD v4:
6-98874399-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98874399T>G , CM000668.2:g.98874399T>G | GRCh38 |
| NC_000006.11:g.99322275T>G , CM000668.1:g.99322275T>G | GRCh37 |
| NC_000006.10:g.99428996T>G | NCBI36 |
| NG_033903.1:g.78608A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1745A>C MANE Select | ENSP00000358247.1:p.Glu582Ala | |
| ENST00000229971.2:c.1745A>C | ENSP00000229971.1:p.Glu582Ala | |
| ENST00000369244.6:c.1745A>C | ENSP00000358247.1:p.Glu582Ala | |
| NM_001278716.1:c.1745A>C | NP_001265645.1:p.Glu582Ala | |
| NM_012160.4:c.1745A>C | NP_036292.2:p.Glu582Ala | |
| NR_103836.1:n.1790A>C | ||
| XM_005266930.1:c.1673A>C | XP_005266987.1:p.Glu558Ala | |
| XM_005266930.3:c.1673A>C | XP_005266987.1:p.Glu558Ala | |
| XM_017010726.1:c.1745A>C | XP_016866215.1:p.Glu582Ala | |
| XM_017010727.2:c.1673A>C | XP_016866216.1:p.Glu558Ala | |
| XM_017010728.1:c.1019A>C | XP_016866217.1:p.Glu340Ala | |
| NM_001278716.2:c.1745A>C MANE Select | NP_001265645.1:p.Glu582Ala | |
| NR_103836.2:n.1730A>C | ||
| NM_012160.5:c.1745A>C | NP_036292.2:p.Glu582Ala |