Linked Data
ClinVar Variation Id:
542092
dbSNP Id:
rs184423475
ExAC:
3:69171391 G / A
gnomAD v2:
3-69171391-G-A
gnomAD v3:
3-69122240-G-A
gnomAD v4:
3-69122240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69122240G>A , CM000665.2:g.69122240G>A | GRCh38 |
| NC_000003.11:g.69171391G>A , CM000665.1:g.69171391G>A | GRCh37 |
| NC_000003.10:g.69254081G>A | NCBI36 |
| NG_041828.1:g.5356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.147C>T MANE Select | ENSP00000414670.3:p.Pro49= | |
| ENST00000420581.6:c.147C>T | ENSP00000414670.2:p.Pro49= | |
| ENST00000475434.1:c.147C>T | ENSP00000418645.1:p.Pro49= | |
| ENST00000489031.5:c.147C>T | ENSP00000417210.1:p.Pro49= | |
| NM_001304418.1:c.147C>T | NP_001291347.1:p.Pro49= | |
| NM_198271.4:c.147C>T | NP_938012.2:p.Pro49= | |
| NM_001304418.3:c.147C>T | NP_001291347.1:p.Pro49= | |
| NM_198271.5:c.147C>T MANE Select | NP_938012.2:p.Pro49= |