Linked Data
ClinVar Variation Id:
2894741
ClinVar RCV Id:
RCV003725995
dbSNP Id:
rs1359269119
gnomAD v3:
3-101726625-A-G
gnomAD v4:
3-101726625-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101726625A>G , CM000665.2:g.101726625A>G | GRCh38 |
| NC_000003.11:g.101445469A>G , CM000665.1:g.101445469A>G | GRCh37 |
| NC_000003.10:g.102928159A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.75A>G | ENSP00000419009.1:p.Leu25= | |
| ENST00000467655.2:c.75A>G | ENSP00000418547.2:p.Leu25= | |
| ENST00000704365.1:c.75A>G | ENSP00000515873.1:p.Leu25= | |
| ENST00000704366.1:c.75A>G | ENSP00000515874.1:p.Leu25= | |
| ENST00000704367.1:c.75A>G | ENSP00000515875.1:p.Leu25= | |
| ENST00000704368.1:n.131A>G | ||
| ENST00000704369.1:c.-40+1906A>G | ENSP00000515876.1:n.-40+1906A>G | |
| ENST00000704370.1:c.69A>G | ENSP00000515877.1:p.Leu23= | |
| ENST00000704371.1:n.66A>G | ||
| ENST00000704444.1:c.-142A>G | ENSP00000515896.1:n.-142A>G | |
| ENST00000704445.1:c.-296A>G | ENSP00000515897.1:n.-296A>G | |
| ENST00000704446.1:c.96A>G | ENSP00000515898.1:p.Leu32= | |
| ENST00000341893.8:c.75A>G MANE Select | ENSP00000342510.3:p.Leu25= | |
| ENST00000341893.7:c.75A>G | ENSP00000342510.3:p.Leu25= | |
| ENST00000465011.1:c.75A>G | ENSP00000419009.1:p.Leu25= | |
| ENST00000489172.5:n.159A>G | ||
| ENST00000494050.5:c.75A>G | ENSP00000418185.1:p.Leu25= | |
| NM_001303401.1:c.75A>G | NP_001290330.1:p.Leu25= | |
| NM_024548.3:c.75A>G | NP_078824.2:p.Leu25= | |
| XM_006713743.2:c.75A>G | XP_006713806.1:p.Leu25= | |
| XM_011513125.1:c.-142A>G | XP_011511427.1:n.-142A>G | |
| XM_011513126.1:c.-142A>G | XP_011511428.1:n.-142A>G | |
| XM_011513127.1:c.-296A>G | XP_011511429.1:n.-296A>G | |
| XM_006713743.4:c.75A>G | XP_006713806.1:p.Leu25= | |
| XM_017007178.2:c.75A>G | XP_016862667.1:p.Leu25= | |
| NM_024548.4:c.75A>G MANE Select | NP_078824.2:p.Leu25= | |
| NM_001303401.2:c.75A>G | NP_001290330.1:p.Leu25= |