Linked Data
ClinVar Variation Id:
287774
dbSNP Id:
rs145845197
ExAC:
1:160254899 C / T
gnomAD v2:
1-160254899-C-T
gnomAD v3:
1-160285109-C-T
gnomAD v4:
1-160285109-C-T
COSMIC:
COSM3689088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160285109C>T , CM000663.2:g.160285109C>T | GRCh38 |
| NC_000001.10:g.160254899C>T , CM000663.1:g.160254899C>T | GRCh37 |
| NC_000001.9:g.158521523C>T | NCBI36 |
| NG_008637.1:g.5043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.16G>A MANE Select | ENSP00000357051.5:p.Glu6Lys | |
| ENST00000556710.6:c.16G>A | ENSP00000451235.2:p.Glu6Lys | |
| ENST00000368072.9:c.16G>A | ENSP00000357051.5:p.Glu6Lys | |
| ENST00000472750.5:c.16G>A | ENSP00000434633.1:p.Glu6Lys | |
| ENST00000524939.1:n.33G>A | ||
| ENST00000532643.5:c.16G>A | ENSP00000435915.1:p.Glu6Lys | |
| ENST00000533104.1:n.25G>A | ||
| ENST00000533699.5:n.64+1176G>A | ||
| ENST00000556710.5:c.-230G>A | ENSP00000451235.1:n.-230G>A | |
| NM_001193644.1:c.16G>A | NP_001180573.1:p.Glu6Lys | |
| NM_002857.3:c.16G>A | NP_002848.1:p.Glu6Lys | |
| NR_036492.1:n.43G>A | ||
| NR_036493.1:n.43G>A | ||
| XR_001738265.1:n.88+254C>T | ||
| NM_002857.4:c.16G>A MANE Select | NP_002848.1:p.Glu6Lys | |
| NR_036492.2:n.25G>A | ||
| NR_036493.2:n.25G>A |