Linked Data
ClinVar Variation Id:
48364
dbSNP Id:
rs140548353
ExAC:
1:215940062 C / T
gnomAD v2:
1-215940062-C-T
gnomAD v3:
1-215766720-C-T
gnomAD v4:
1-215766720-C-T
COSMIC:
COSM1689842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766720C>T , CM000663.2:g.215766720C>T | GRCh38 |
| NC_000001.10:g.215940062C>T , CM000663.1:g.215940062C>T | GRCh37 |
| NC_000001.9:g.214006685C>T | NCBI36 |
| NG_009497.1:g.661677G>A | |
| NG_009497.2:g.661729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11008G>A MANE Select | ENSP00000305941.3:p.Glu3670Lys | |
| ENST00000674083.1:c.11008G>A | ENSP00000501296.1:p.Glu3670Lys | |
| ENST00000307340.7:c.11008G>A | ENSP00000305941.3:p.Glu3670Lys | |
| NM_206933.2:c.11008G>A | NP_996816.2:p.Glu3670Lys | |
| NM_206933.3:c.11008G>A | NP_996816.2:p.Glu3670Lys | |
| NM_206933.4:c.11008G>A MANE Select | NP_996816.3:p.Glu3670Lys |