Linked Data
ClinVar Variation Id:
435104
ClinVar RCV Id:
RCV000501798
dbSNP Id:
rs146254762
ExAC:
6:159188109 G / A
gnomAD v2:
6-159188109-G-A
gnomAD v3:
6-158767077-G-A
gnomAD v4:
6-158767077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158767077G>A , CM000668.2:g.158767077G>A | GRCh38 |
| NC_000006.11:g.159188109G>A , CM000668.1:g.159188109G>A | GRCh37 |
| NC_000006.10:g.159108097G>A | NCBI36 |
| NG_052952.1:g.57348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367075.4:c.1598C>T MANE Select | ENSP00000356042.3:p.Thr533Met | |
| ENST00000337147.11:c.1598C>T | ENSP00000338934.7:p.Thr533Met | |
| ENST00000367075.3:c.1598C>T | ENSP00000356042.3:p.Thr533Met | |
| ENST00000392177.8:c.1598C>T | ENSP00000376016.5:p.Thr533Met | |
| NM_001111077.1:c.1598C>T | NP_001104547.1:p.Thr533Met | |
| NM_003379.4:c.1598C>T | NP_003370.2:p.Thr533Met | |
| XM_011536110.1:c.1190C>T | XP_011534412.1:p.Thr397Met | |
| NM_001111077.2:c.1598C>T MANE Select | NP_001104547.1:p.Thr533Met | |
| NM_003379.5:c.1598C>T | NP_003370.2:p.Thr533Met |