Linked Data
ClinVar Variation Id:
534596
dbSNP Id:
rs543543733
ExAC:
18:43490528 G / A
gnomAD v2:
18-43490528-G-A
gnomAD v3:
18-45910563-G-A
gnomAD v4:
18-45910563-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45910563G>A , CM000680.2:g.45910563G>A | GRCh38 |
| NC_000018.9:g.43490528G>A , CM000680.1:g.43490528G>A | GRCh37 |
| NC_000018.8:g.41744526G>A | NCBI36 |
| NG_042838.1:g.61777C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.2347C>T | ||
| ENST00000587884.2:c.4163C>T | ENSP00000466990.2:p.Pro1388Leu | |
| ENST00000590884.6:c.4163C>T | ENSP00000466403.2:p.Pro1388Leu | |
| ENST00000592272.6:c.4163C>T | ENSP00000467464.2:p.Pro1388Leu | |
| ENST00000696482.1:c.3903C>T | ENSP00000512656.1:n.3903C>T | |
| ENST00000696483.1:c.4163C>T | ENSP00000512657.1:p.Pro1388Leu | |
| ENST00000696484.1:c.4163C>T | ENSP00000512658.1:p.Pro1388Leu | |
| ENST00000696485.1:c.4163C>T | ENSP00000512659.1:p.Pro1388Leu | |
| ENST00000696489.1:c.4163C>T | ENSP00000512660.1:p.Pro1388Leu | |
| ENST00000696490.1:c.4163C>T | ENSP00000512661.1:p.Pro1388Leu | |
| ENST00000282041.11:c.4163C>T MANE Select | ENSP00000282041.4:p.Pro1388Leu | |
| ENST00000282041.9:c.4163C>T | ENSP00000282041.4:p.Pro1388Leu | |
| ENST00000585906.5:n.942C>T | ||
| ENST00000587884.1:c.788C>T | ENSP00000466990.1:p.Pro263Leu | |
| ENST00000587974.1:n.4198C>T | ||
| ENST00000590884.5:c.788C>T | ENSP00000466403.1:p.Pro263Leu | |
| ENST00000592272.5:c.788C>T | ENSP00000467464.1:p.Pro263Leu | |
| NM_020964.2:c.4163C>T | NP_066015.2:p.Pro1388Leu | |
| XM_011526120.1:c.4190C>T | XP_011524422.1:p.Pro1397Leu | |
| XM_011526121.1:c.4190C>T | XP_011524423.1:p.Pro1397Leu | |
| XM_011526122.1:c.4163C>T | XP_011524424.1:p.Pro1388Leu | |
| XM_011526123.1:c.4190C>T | XP_011524425.1:p.Pro1397Leu | |
| XM_011526124.1:c.4190C>T | XP_011524426.1:p.Pro1397Leu | |
| XM_011526125.1:c.4049C>T | XP_011524427.1:p.Pro1350Leu | |
| XM_011526126.1:c.3125C>T | XP_011524428.1:p.Pro1042Leu | |
| XM_011526127.1:c.4190C>T | XP_011524429.1:p.Pro1397Leu | |
| XM_011526128.1:c.4190C>T | XP_011524430.1:p.Pro1397Leu | |
| XR_935244.1:n.4263C>T | ||
| NM_020964.3:c.4163C>T MANE Select | NP_066015.2:p.Pro1388Leu | |
| XM_017025889.1:c.4163C>T | XP_016881378.1:p.Pro1388Leu | |
| XM_017025890.2:c.4163C>T | XP_016881379.1:p.Pro1388Leu | |
| XM_017025891.1:c.4022C>T | XP_016881380.1:p.Pro1341Leu | |
| XM_017025892.1:c.3098C>T | XP_016881381.1:p.Pro1033Leu | |
| XM_017025893.1:c.788C>T | XP_016881382.1:p.Pro263Leu | |
| XR_001753256.1:n.4245C>T | ||
| XR_001753257.1:n.4245C>T |