Linked Data
ClinVar Variation Id:
92338
dbSNP Id:
rs34526199
ExAC:
1:115222237 T / A
gnomAD v2:
1-115222237-T-A
gnomAD v3:
1-114679616-T-A
gnomAD v4:
1-114679616-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679616T>A , CM000663.2:g.114679616T>A | GRCh38 |
| NC_000001.10:g.115222237T>A , CM000663.1:g.115222237T>A | GRCh37 |
| NC_000001.9:g.115023760T>A | NCBI36 |
| NG_008012.1:g.20940A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.848A>T | ENSP00000358551.4:p.Lys283Ile | |
| ENST00000520113.7:c.860A>T MANE Select | ENSP00000430075.3:p.Lys287Ile | |
| ENST00000637080.1:c.643A>T | ENSP00000489753.1:n.643A>T | |
| ENST00000639077.1:n.525A>T | ||
| ENST00000369538.3:c.947A>T | ENSP00000358551.3:p.Lys316Ile | |
| ENST00000520113.6:c.959A>T | ENSP00000430075.2:p.Lys320Ile | |
| NM_000036.2:c.959A>T | NP_000027.2:p.Lys320Ile | |
| NM_001172626.1:c.947A>T | NP_001166097.1:p.Lys316Ile | |
| NM_000036.3:c.860A>T MANE Select | NP_000027.3:p.Lys287Ile | |
| NM_001172626.2:c.848A>T | NP_001166097.2:p.Lys283Ile |