Linked Data
ClinVar Variation Id:
348987
dbSNP Id:
rs555652075
ExAC:
4:5578065 C / T
gnomAD v2:
4-5578065-C-T
gnomAD v3:
4-5576338-C-T
gnomAD v4:
4-5576338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5576338C>T , CM000666.2:g.5576338C>T | GRCh38 |
| NC_000004.11:g.5578065C>T , CM000666.1:g.5578065C>T | GRCh37 |
| NC_000004.10:g.5628966C>T | NCBI36 |
| NG_015821.1:g.138211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3174G>A MANE Select | ENSP00000342144.5:p.Leu1058= | |
| ENST00000310917.6:c.2934G>A | ENSP00000311683.2:p.Leu978= | |
| ENST00000344408.9:c.3174G>A | ENSP00000342144.5:p.Leu1058= | |
| ENST00000475313.5:c.2934G>A | ENSP00000431981.1:p.Leu978= | |
| ENST00000509670.1:c.*1567G>A | ENSP00000423876.1:n.*1567G>A | |
| NM_001166136.1:c.2934G>A | NP_001159608.1:p.Leu978= | |
| NM_147127.4:c.3174G>A | NP_667338.3:p.Leu1058= | |
| XM_011513392.1:c.3183G>A | XP_011511694.1:p.Leu1061= | |
| XM_011513393.1:c.3183G>A | XP_011511695.1:p.Leu1061= | |
| XM_011513394.1:c.2943G>A | XP_011511696.1:p.Leu981= | |
| XM_017007736.1:c.2934G>A | XP_016863225.1:p.Leu978= | |
| XM_017007737.1:c.2934G>A | XP_016863226.1:p.Leu978= | |
| XM_017007738.1:c.3174G>A | XP_016863227.1:p.Leu1058= | |
| XM_017007739.1:c.1494G>A | XP_016863228.1:p.Leu498= | |
| XM_024453893.1:c.1494G>A | XP_024309661.1:p.Leu498= | |
| XR_001741141.1:n.3123-1566G>A | ||
| NM_147127.5:c.3174G>A MANE Select | NP_667338.3:p.Leu1058= | |
| NM_001166136.2:c.2934G>A | NP_001159608.1:p.Leu978= |