Linked Data
ClinVar Variation Id:
2152743
ClinVar RCV Id:
RCV003075143
dbSNP Id:
rs201771736
ExAC:
3:101443534 G / T
gnomAD v2:
3-101443534-G-T
gnomAD v3:
3-101724690-G-T
gnomAD v4:
3-101724690-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101724690G>T , CM000665.2:g.101724690G>T | GRCh38 |
| NC_000003.11:g.101443534G>T , CM000665.1:g.101443534G>T | GRCh37 |
| NC_000003.10:g.102926224G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.14G>T | ENSP00000419009.1:p.Arg5Leu | |
| ENST00000467655.2:c.14G>T | ENSP00000418547.2:p.Arg5Leu | |
| ENST00000704365.1:c.14G>T | ENSP00000515873.1:p.Arg5Leu | |
| ENST00000704366.1:c.14G>T | ENSP00000515874.1:p.Arg5Leu | |
| ENST00000704367.1:c.14G>T | ENSP00000515875.1:p.Arg5Leu | |
| ENST00000704368.1:n.70G>T | ||
| ENST00000704369.1:c.-69G>T | ENSP00000515876.1:n.-69G>T | |
| ENST00000704370.1:c.14G>T | ENSP00000515877.1:p.Arg5Leu | |
| ENST00000704371.1:n.5G>T | ||
| ENST00000341893.8:c.14G>T MANE Select | ENSP00000342510.3:p.Arg5Leu | |
| ENST00000341893.7:c.14G>T | ENSP00000342510.3:p.Arg5Leu | |
| ENST00000465011.1:c.14G>T | ENSP00000419009.1:p.Arg5Leu | |
| ENST00000489172.5:n.98G>T | ||
| ENST00000494050.5:c.14G>T | ENSP00000418185.1:p.Arg5Leu | |
| NM_001303401.1:c.14G>T | NP_001290330.1:p.Arg5Leu | |
| NM_024548.3:c.14G>T | NP_078824.2:p.Arg5Leu | |
| XM_006713743.2:c.14G>T | XP_006713806.1:p.Arg5Leu | |
| XM_011513127.1:c.-357G>T | XP_011511429.1:n.-357G>T | |
| XM_006713743.4:c.14G>T | XP_006713806.1:p.Arg5Leu | |
| XM_017007178.2:c.14G>T | XP_016862667.1:p.Arg5Leu | |
| NM_024548.4:c.14G>T MANE Select | NP_078824.2:p.Arg5Leu | |
| NM_001303401.2:c.14G>T | NP_001290330.1:p.Arg5Leu |