Linked Data
ClinVar Variation Id:
1436484
dbSNP Id:
rs1342235871
gnomAD v2:
12-49426798-A-G
gnomAD v3:
12-49033015-A-G
gnomAD v4:
12-49033015-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49033015A>G , CM000674.2:g.49033015A>G | GRCh38 |
| NC_000012.11:g.49426798A>G , CM000674.1:g.49426798A>G | GRCh37 |
| NC_000012.10:g.47713065A>G | NCBI36 |
| NG_027827.1:g.27310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.11690T>C | ENSP00000506726.1:p.Leu3897Ser | |
| ENST00000685166.1:c.11699T>C | ENSP00000509386.1:p.Leu3900Ser | |
| ENST00000685554.1:c.1250T>C | ENSP00000508640.1:p.Leu417Ser | |
| ENST00000687201.1:c.3269T>C | ENSP00000510037.1:p.Leu1090Ser | |
| ENST00000692637.1:c.11687T>C | ENSP00000509666.1:p.Leu3896Ser | |
| ENST00000692841.1:c.3169T>C | ENSP00000508711.1:n.3169T>C | |
| ENST00000301067.12:c.11690T>C MANE Select | ENSP00000301067.7:p.Leu3897Ser | |
| ENST00000301067.11:c.11690T>C | ENSP00000301067.7:p.Leu3897Ser | |
| NM_003482.3:c.11690T>C | NP_003473.3:p.Leu3897Ser | |
| XM_005269162.3:c.11690T>C | XP_005269219.1:p.Leu3897Ser | |
| XM_006719614.2:c.11699T>C | XP_006719677.1:p.Leu3900Ser | |
| XM_006719616.2:c.11687T>C | XP_006719679.1:p.Leu3896Ser | |
| XM_011538770.1:c.11699T>C | XP_011537072.1:p.Leu3900Ser | |
| XM_011538771.1:c.11696T>C | XP_011537073.1:p.Leu3899Ser | |
| XM_011538772.1:c.11690T>C | XP_011537074.1:p.Leu3897Ser | |
| XM_011538773.1:c.11687T>C | XP_011537075.1:p.Leu3896Ser | |
| XM_011538774.1:c.11678T>C | XP_011537076.1:p.Leu3893Ser | |
| XM_011538775.1:c.11699T>C | XP_011537077.1:p.Leu3900Ser | |
| XM_011538776.1:c.11606T>C | XP_011537078.1:p.Leu3869Ser | |
| XR_944740.1:n.14019T>C | ||
| XM_005269162.4:c.11690T>C | XP_005269219.1:p.Leu3897Ser | |
| XM_006719614.4:c.11699T>C | XP_006719677.1:p.Leu3900Ser | |
| XM_006719616.3:c.11687T>C | XP_006719679.1:p.Leu3896Ser | |
| XM_011538770.2:c.11699T>C | XP_011537072.1:p.Leu3900Ser | |
| XM_011538771.2:c.11696T>C | XP_011537073.1:p.Leu3899Ser | |
| XM_011538772.2:c.11690T>C | XP_011537074.1:p.Leu3897Ser | |
| XM_011538773.2:c.11687T>C | XP_011537075.1:p.Leu3896Ser | |
| XM_011538774.2:c.11678T>C | XP_011537076.1:p.Leu3893Ser | |
| XM_011538776.2:c.11606T>C | XP_011537078.1:p.Leu3869Ser | |
| XR_001748874.1:n.13008T>C | ||
| NM_003482.4:c.11690T>C MANE Select | NP_003473.3:p.Leu3897Ser |