Linked Data
ClinVar Variation Id:
586919
ClinVar RCV Id:
RCV000714149
dbSNP Id:
rs1566091706
gnomAD v4:
13-47988945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47988945G>T , CM000675.2:g.47988945G>T | GRCh38 |
| NC_000013.10:g.48563080G>T , CM000675.1:g.48563080G>T | GRCh37 |
| NC_000013.9:g.47461081G>T | NCBI36 |
| NG_008241.1:g.17383C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.134C>A | ENSP00000495674.1:p.Ala45Asp | |
| ENST00000643023.1:c.308C>A | ENSP00000495664.1:p.Ala103Asp | |
| ENST00000643584.1:c.308C>A | ENSP00000494987.1:p.Ala103Asp | |
| ENST00000644338.1:c.308C>A | ENSP00000494723.1:p.Ala103Asp | |
| ENST00000646602.1:c.308C>A | ENSP00000495250.1:p.Ala103Asp | |
| ENST00000646804.1:c.134C>A | ENSP00000493977.1:p.Ala45Asp | |
| ENST00000646932.1:c.308C>A MANE Select | ENSP00000494360.1:p.Ala103Asp | |
| ENST00000647361.1:c.*101C>A | ENSP00000494607.1:n.*101C>A | |
| ENST00000378654.8:c.308C>A | ENSP00000367923.3:p.Ala103Asp | |
| ENST00000433022.1:c.90+12235C>A | ENSP00000415091.1:n.90+12235C>A | |
| ENST00000434484.5:c.98C>A | ENSP00000392771.1:p.Ala33Asp | |
| ENST00000470760.2:c.308C>A | ENSP00000488974.1:p.Ala103Asp | |
| ENST00000497202.6:c.402C>A | ENSP00000489175.1:p.Ser134Arg | |
| NM_003850.2:c.308C>A | NP_003841.1:p.Ala103Asp | |
| XM_011535292.1:c.71C>A | XP_011533594.1:p.Ala24Asp | |
| XM_011535293.1:c.-95C>A | XP_011533595.1:n.-95C>A | |
| XR_941688.1:n.352C>A | ||
| NM_003850.3:c.308C>A MANE Select | NP_003841.1:p.Ala103Asp |