Linked Data
ClinVar Variation Id:
437480
ClinVar RCV Id:
RCV000503405
dbSNP Id:
rs1443104983
gnomAD v3:
6-98875531-G-T
gnomAD v4:
6-98875531-G-T
PubMed:
PMID:27858371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875531G>T , CM000668.2:g.98875531G>T | GRCh38 |
| NC_000006.11:g.99323407G>T , CM000668.1:g.99323407G>T | GRCh37 |
| NC_000006.10:g.99430128G>T | NCBI36 |
| NG_033903.1:g.77476C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1586C>A MANE Select | ENSP00000358247.1:p.Ala529Glu | |
| ENST00000229971.2:c.1586C>A | ENSP00000229971.1:p.Ala529Glu | |
| ENST00000369244.6:c.1586C>A | ENSP00000358247.1:p.Ala529Glu | |
| NM_001278716.1:c.1586C>A | NP_001265645.1:p.Ala529Glu | |
| NM_012160.4:c.1586C>A | NP_036292.2:p.Ala529Glu | |
| NR_103836.1:n.1631C>A | ||
| XM_005266930.1:c.1514C>A | XP_005266987.1:p.Ala505Glu | |
| XM_005266930.3:c.1514C>A | XP_005266987.1:p.Ala505Glu | |
| XM_017010726.1:c.1586C>A | XP_016866215.1:p.Ala529Glu | |
| XM_017010727.2:c.1514C>A | XP_016866216.1:p.Ala505Glu | |
| XM_017010728.1:c.860C>A | XP_016866217.1:p.Ala287Glu | |
| NM_001278716.2:c.1586C>A MANE Select | NP_001265645.1:p.Ala529Glu | |
| NR_103836.2:n.1571C>A | ||
| NM_012160.5:c.1586C>A | NP_036292.2:p.Ala529Glu |