Linked Data
ClinVar Variation Id:
462112
ClinVar RCV Id:
RCV000532579
dbSNP Id:
rs747059037
ExAC:
17:80037123 C / T
gnomAD v2:
17-80037123-C-T
gnomAD v3:
17-82079247-C-T
gnomAD v4:
17-82079247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079247C>T , CM000679.2:g.82079247C>T | GRCh38 |
| NC_000017.10:g.80037123C>T , CM000679.1:g.80037123C>T | GRCh37 |
| NC_000017.9:g.77630412C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7432G>A MANE Select | ENSP00000304592.2:p.Glu2478Lys | |
| ENST00000636628.1:c.75G>A | ||
| ENST00000306749.3:c.7432G>A | ENSP00000304592.2:p.Glu2478Lys | |
| ENST00000578424.2:n.711G>A | ||
| ENST00000580382.1:c.602G>A | ||
| ENST00000584610.2:n.607G>A | ||
| ENST00000634990.1:c.7426G>A | ENSP00000488964.1:p.Glu2476Lys | |
| NM_004104.4:c.7432G>A | NP_004095.4:p.Glu2478Lys | |
| XM_011523538.1:c.7432G>A | XP_011521840.1:p.Glu2478Lys | |
| XM_011523538.2:c.7432G>A | XP_011521840.1:p.Glu2478Lys | |
| NM_004104.5:c.7432G>A MANE Select | NP_004095.4:p.Glu2478Lys |