Linked Data
ClinVar Variation Id:
434904
dbSNP Id:
rs544728429
ExAC:
8:38091968 T / C
gnomAD v2:
8-38091968-T-C
gnomAD v3:
8-38234450-T-C
gnomAD v4:
8-38234450-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38234450T>C , CM000670.2:g.38234450T>C | GRCh38 |
| NC_000008.10:g.38091968T>C , CM000670.1:g.38091968T>C | GRCh37 |
| NC_000008.9:g.38211125T>C | NCBI36 |
| NG_033875.1:g.7960T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.277T>C MANE Select | ENSP00000380352.2:p.Leu93= | |
| ENST00000397166.6:c.277T>C | ENSP00000380352.2:p.Leu93= | |
| ENST00000519857.5:n.474T>C | ||
| ENST00000520272.6:c.277T>C | ENSP00000429932.2:p.Leu93= | |
| ENST00000526237.5:c.220+1236T>C | ENSP00000436994.1:n.220+1236T>C | |
| ENST00000526370.1:n.430T>C | ||
| ENST00000527415.5:c.187T>C | ENSP00000432024.1:p.Leu63= | |
| ENST00000527834.5:c.277T>C | ENSP00000432433.1:p.Leu93= | |
| ENST00000528358.5:c.271T>C | ENSP00000433118.1:p.Leu91= | |
| ENST00000529642.1:c.-12T>C | ENSP00000436444.1:n.-12T>C | |
| ENST00000532222.5:c.277T>C | ENSP00000433578.1:p.Leu93= | |
| ENST00000533100.5:c.277T>C | ENSP00000432678.1:p.Leu93= | |
| NM_001164232.1:c.277T>C | NP_001157704.1:p.Leu93= | |
| NM_001164234.1:c.277T>C | NP_001157706.1:p.Leu93= | |
| NM_015214.2:c.277T>C | NP_056029.2:p.Leu93= | |
| XM_005273454.1:c.277T>C | XP_005273511.1:p.Leu93= | |
| XM_005273455.2:c.277T>C | XP_005273512.1:p.Leu93= | |
| XM_005273456.2:c.277T>C | XP_005273513.1:p.Leu93= | |
| XM_011544455.1:c.277T>C | XP_011542757.1:p.Leu93= | |
| XM_011544456.1:c.277T>C | XP_011542758.1:p.Leu93= | |
| XR_247123.1:n.802T>C | ||
| XR_949383.1:n.802T>C | ||
| XR_949384.1:n.802T>C | ||
| XR_949385.1:n.802T>C | ||
| XR_949386.1:n.802T>C | ||
| XR_949387.1:n.802T>C | ||
| NM_001362911.1:c.277T>C | NP_001349840.1:p.Leu93= | |
| NM_001362912.1:c.277T>C | NP_001349841.1:p.Leu93= | |
| NM_001362913.1:c.277T>C | NP_001349842.1:p.Leu93= | |
| NM_001362914.1:c.277T>C | NP_001349843.1:p.Leu93= | |
| NR_156416.1:n.654T>C | ||
| NR_156417.1:n.654T>C | ||
| XM_011544456.2:c.277T>C | XP_011542758.1:p.Leu93= | |
| XM_017013255.2:c.-709T>C | XP_016868744.1:n.-709T>C | |
| XR_001745504.2:n.560T>C | ||
| XR_001745506.2:n.560T>C | ||
| NM_001362911.2:c.277T>C | NP_001349840.1:p.Leu93= | |
| NM_001362912.2:c.277T>C | NP_001349841.1:p.Leu93= | |
| NM_015214.3:c.277T>C MANE Select | NP_056029.2:p.Leu93= | |
| NR_156417.2:n.560T>C | ||
| NM_001164232.2:c.277T>C | NP_001157704.1:p.Leu93= | |
| NM_001164234.2:c.277T>C | NP_001157706.1:p.Leu93= | |
| NM_001362913.2:c.277T>C | NP_001349842.1:p.Leu93= | |
| NM_001362914.2:c.277T>C | NP_001349843.1:p.Leu93= | |
| NR_156416.2:n.560T>C |