Linked Data
ClinVar Variation Id:
288133
dbSNP Id:
rs781009014
ExAC:
4:5710115 G / A
gnomAD v2:
4-5710115-G-A
gnomAD v3:
4-5708388-G-A
gnomAD v4:
4-5708388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5708388G>A , CM000666.2:g.5708388G>A | GRCh38 |
| NC_000004.11:g.5710115G>A , CM000666.1:g.5710115G>A | GRCh37 |
| NC_000004.10:g.5761016G>A | NCBI36 |
| NG_008843.1:g.2192G>A | |
| NG_015821.1:g.6161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.126C>T MANE Select | ENSP00000342144.5:p.Leu42= | |
| ENST00000310917.6:c.-13+441C>T | ENSP00000311683.2:n.-13+441C>T | |
| ENST00000344408.9:c.126C>T | ENSP00000342144.5:p.Leu42= | |
| ENST00000475313.5:c.-13+441C>T | ENSP00000431981.1:n.-13+441C>T | |
| ENST00000509670.1:c.-106-248C>T | ENSP00000423876.1:n.-106-248C>T | |
| NM_001166136.1:c.-13+441C>T | NP_001159608.1:n.-13+441C>T | |
| NM_147127.4:c.126C>T | NP_667338.3:p.Leu42= | |
| XM_011513392.1:c.126C>T | XP_011511694.1:p.Leu42= | |
| XM_011513393.1:c.126C>T | XP_011511695.1:p.Leu42= | |
| XM_011513394.1:c.-13+441C>T | XP_011511696.1:n.-13+441C>T | |
| XM_017007736.1:c.-106-248C>T | XP_016863225.1:n.-106-248C>T | |
| XM_017007738.1:c.126C>T | XP_016863227.1:p.Leu42= | |
| XM_017007739.1:c.-1538-248C>T | XP_016863228.1:n.-1538-248C>T | |
| XR_001741141.1:n.191C>T | ||
| NM_147127.5:c.126C>T MANE Select | NP_667338.3:p.Leu42= | |
| NM_001166136.2:c.-13+441C>T | NP_001159608.1:n.-13+441C>T |