Linked Data
ClinVar Variation Id:
2975466
ClinVar RCV Id:
RCV003831072
dbSNP Id:
rs948864139
gnomAD v2:
3-101450761-T-G
gnomAD v4:
3-101731917-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101731917T>G , CM000665.2:g.101731917T>G | GRCh38 |
| NC_000003.11:g.101450761T>G , CM000665.1:g.101450761T>G | GRCh37 |
| NC_000003.10:g.102933451T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*160T>G | ENSP00000419009.1:n.*160T>G | |
| ENST00000467655.2:c.423T>G | ENSP00000418547.2:p.Leu141= | |
| ENST00000704365.1:c.525T>G | ENSP00000515873.1:p.Leu175= | |
| ENST00000704366.1:c.423T>G | ENSP00000515874.1:p.Leu141= | |
| ENST00000704367.1:c.423T>G | ENSP00000515875.1:p.Leu141= | |
| ENST00000704368.1:n.581T>G | ||
| ENST00000704369.1:c.39T>G | ENSP00000515876.1:p.Leu13= | |
| ENST00000704370.1:c.519T>G | ENSP00000515877.1:p.Leu173= | |
| ENST00000704371.1:n.516T>G | ||
| ENST00000704372.1:n.879T>G | ||
| ENST00000704444.1:c.309T>G | ENSP00000515896.1:p.Leu103= | |
| ENST00000704445.1:c.177T>G | ENSP00000515897.1:p.Leu59= | |
| ENST00000704446.1:c.546T>G | ENSP00000515898.1:p.Leu182= | |
| ENST00000341893.8:c.525T>G MANE Select | ENSP00000342510.3:p.Leu175= | |
| ENST00000341893.7:c.525T>G | ENSP00000342510.3:p.Leu175= | |
| ENST00000465011.1:c.*160T>G | ENSP00000419009.1:n.*160T>G | |
| ENST00000467655.1:c.150T>G | ENSP00000418547.1:p.Leu50= | |
| ENST00000489172.5:n.507T>G | ||
| ENST00000494050.5:c.525T>G | ENSP00000418185.1:p.Leu175= | |
| NM_001303401.1:c.525T>G | NP_001290330.1:p.Leu175= | |
| NM_024548.3:c.525T>G | NP_078824.2:p.Leu175= | |
| XM_006713743.2:c.423T>G | XP_006713806.1:p.Leu141= | |
| XM_011513125.1:c.309T>G | XP_011511427.1:p.Leu103= | |
| XM_011513126.1:c.309T>G | XP_011511428.1:p.Leu103= | |
| XM_011513127.1:c.177T>G | XP_011511429.1:p.Leu59= | |
| XM_006713743.4:c.423T>G | XP_006713806.1:p.Leu141= | |
| XM_017007178.2:c.423T>G | XP_016862667.1:p.Leu141= | |
| NM_024548.4:c.525T>G MANE Select | NP_078824.2:p.Leu175= | |
| NM_001303401.2:c.525T>G | NP_001290330.1:p.Leu175= |