Linked Data
dbSNP Id:
rs759553085
ExAC:
12:40757356 G / A
gnomAD v2:
12-40757356-G-A
gnomAD v4:
12-40363554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363554G>A , CM000674.2:g.40363554G>A | GRCh38 |
| NC_000012.11:g.40757356G>A , CM000674.1:g.40757356G>A | GRCh37 |
| NC_000012.10:g.39043623G>A | NCBI36 |
| NG_011709.1:g.143544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7181G>A MANE Select | ENSP00000298910.7:p.Arg2394Lys | |
| ENST00000636518.1:c.978G>A | ||
| ENST00000679360.1:c.*6090G>A | ENSP00000505368.1:n.*6090G>A | |
| ENST00000679532.1:c.2955G>A | ||
| ENST00000679683.1:c.971G>A | ||
| ENST00000680018.1:c.2626G>A | ENSP00000505347.1:n.2626G>A | |
| ENST00000680422.1:c.4268G>A | ||
| ENST00000680425.1:c.2348G>A | ENSP00000506459.1:n.2348G>A | |
| ENST00000680453.1:c.2638G>A | ||
| ENST00000680790.1:c.6926G>A | ENSP00000505335.1:p.Arg2309Lys | |
| ENST00000681136.1:n.3165G>A | ||
| ENST00000681696.1:c.2864G>A | ENSP00000505871.1:p.Arg955Lys | |
| ENST00000681773.1:n.388G>A | ||
| ENST00000298910.11:c.7181G>A | ENSP00000298910.7:p.Arg2394Lys | |
| ENST00000430804.5:c.4477G>A | ||
| ENST00000479187.5:n.3862G>A | ||
| NM_198578.3:c.7181G>A | NP_940980.3:p.Arg2394Lys | |
| XM_005268629.2:c.7181G>A | XP_005268686.1:p.Arg2394Lys | |
| XM_011537877.1:c.7181G>A | XP_011536179.1:p.Arg2394Lys | |
| XM_011537879.1:c.5978G>A | XP_011536181.1:p.Arg1993Lys | |
| XR_944868.1:n.485-8727C>T | ||
| XM_005268629.4:c.7181G>A | XP_005268686.1:p.Arg2394Lys | |
| XM_011537877.3:c.7181G>A | XP_011536179.1:p.Arg2394Lys | |
| XM_017018787.1:c.4097G>A | XP_016874276.1:p.Arg1366Lys | |
| XM_017018788.2:c.3443G>A | XP_016874277.1:p.Arg1148Lys | |
| XM_024448833.1:c.5978G>A | XP_024304601.1:p.Arg1993Lys | |
| XR_944868.2:n.485-8727C>T | ||
| NM_198578.4:c.7181G>A MANE Select | NP_940980.4:p.Arg2394Lys |