Linked Data
ClinVar Variation Id:
381030
ClinVar RCV Id:
RCV000887453
dbSNP Id:
rs144574983
ExAC:
12:49579105 G / A
gnomAD v2:
12-49579105-G-A
gnomAD v3:
12-49185322-G-A
gnomAD v4:
12-49185322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185322G>A , CM000674.2:g.49185322G>A | GRCh38 |
| NC_000012.11:g.49579105G>A , CM000674.1:g.49579105G>A | GRCh37 |
| NC_000012.10:g.47865372G>A | NCBI36 |
| NG_008966.1:g.8757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.1044C>T MANE Select | ENSP00000301071.7:p.Pro348= | |
| ENST00000547939.6:c.939C>T | ENSP00000450268.2:p.Pro313= | |
| ENST00000550767.6:c.939C>T | ENSP00000446637.1:p.Pro313= | |
| ENST00000550811.2:n.2077C>T | ||
| ENST00000552924.2:c.939C>T | ENSP00000448725.2:p.Pro313= | |
| ENST00000679733.1:c.*500C>T | ENSP00000505459.1:n.*500C>T | |
| ENST00000295766.9:c.1044C>T | ENSP00000439020.2:p.Pro348= | |
| ENST00000301071.11:c.1044C>T | ENSP00000301071.7:p.Pro348= | |
| ENST00000550767.5:c.939C>T | ENSP00000446637.1:p.Pro313= | |
| NM_001270399.1:c.1044C>T | NP_001257328.1:p.Pro348= | |
| NM_001270400.1:c.939C>T | NP_001257329.1:p.Pro313= | |
| NM_006009.3:c.1044C>T | NP_006000.2:p.Pro348= | |
| NM_006009.4:c.1044C>T MANE Select | NP_006000.2:p.Pro348= | |
| NM_001270399.2:c.1044C>T | NP_001257328.1:p.Pro348= | |
| NM_001270400.2:c.939C>T | NP_001257329.1:p.Pro313= |