Linked Data
ClinVar Variation Id:
544808
ClinVar RCV Id:
RCV000655905
dbSNP Id:
rs772264078
ExAC:
17:42336715 G / T
gnomAD v2:
17-42336715-G-T
gnomAD v3:
17-44259347-G-T
gnomAD v4:
17-44259347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44259347G>T , CM000679.2:g.44259347G>T | GRCh38 |
| NC_000017.10:g.42336715G>T , CM000679.1:g.42336715G>T | GRCh37 |
| NC_000017.9:g.39692241G>T | NCBI36 |
| NG_007498.1:g.13788C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.695-3C>A MANE Select | ENSP00000262418.6:n.695-3C>A | |
| ENST00000262418.10:c.695-3C>A | ENSP00000262418.6:n.695-3C>A | |
| ENST00000399246.3:c.695-3C>A | ENSP00000382190.3:n.695-3C>A | |
| ENST00000497360.5:n.834-3C>A | ||
| NM_000342.3:c.695-3C>A | NP_000333.1:n.695-3C>A | |
| XM_005257593.3:c.500-3C>A | XP_005257650.1:n.500-3C>A | |
| XM_011525129.1:c.695-3C>A | XP_011523431.1:n.695-3C>A | |
| XM_011525130.1:c.695-3C>A | XP_011523432.1:n.695-3C>A | |
| XM_011525131.1:c.695-3C>A | XP_011523433.1:n.695-3C>A | |
| XM_005257593.5:c.500-3C>A | XP_005257650.1:n.500-3C>A | |
| XM_011525129.2:c.695-3C>A | XP_011523431.1:n.695-3C>A | |
| NM_000342.4:c.695-3C>A MANE Select | NP_000333.1:n.695-3C>A |