Linked Data
ClinVar Variation Id:
268206
ClinVar RCV Id:
RCV000258918
dbSNP Id:
rs886041093
gnomAD v2:
9-140710450-G-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137815998G>A , CM000671.2:g.137815998G>A | GRCh38 |
| NC_000009.11:g.140710450G>A , CM000671.1:g.140710450G>A | GRCh37 |
| NC_000009.10:g.139830271G>A | NCBI36 |
| NG_011776.1:g.202007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3310G>A MANE Select | ENSP00000417980.1:p.Glu1104Lys | |
| ENST00000637161.1:c.3217G>A | ENSP00000490328.1:p.Glu1073Lys | |
| ENST00000637261.1:c.3350G>A | ENSP00000490815.1:n.3350G>A | |
| ENST00000637748.1:n.247G>A | ||
| ENST00000637891.1:c.1384G>A | ENSP00000490907.1:n.1384G>A | |
| ENST00000460843.5:c.3310G>A | ENSP00000417980.1:p.Glu1104Lys | |
| ENST00000462942.3:c.2167G>A | ENSP00000436107.1:p.Glu723Lys | |
| ENST00000494249.5:n.663G>A | ||
| NM_024757.4:c.3310G>A | NP_079033.4:p.Glu1104Lys | |
| XM_005266105.3:c.3301G>A | XP_005266162.1:p.Glu1101Lys | |
| XM_005266110.1:c.3217G>A | XP_005266167.1:p.Glu1073Lys | |
| XM_006717288.2:c.3292G>A | XP_006717351.1:p.Glu1098Lys | |
| XM_011519021.1:c.3319G>A | XP_011517323.1:p.Glu1107Lys | |
| XM_011519022.1:c.3316G>A | XP_011517324.1:p.Glu1106Lys | |
| XM_011519023.1:c.3298G>A | XP_011517325.1:p.Glu1100Lys | |
| XM_011519024.1:c.3241G>A | XP_011517326.1:p.Glu1081Lys | |
| XM_011519025.1:c.3217G>A | XP_011517327.1:p.Glu1073Lys | |
| XM_011519026.1:c.3175G>A | XP_011517328.1:p.Glu1059Lys | |
| XM_011519029.1:c.1741G>A | XP_011517331.1:p.Glu581Lys | |
| XM_011519030.1:c.1093G>A | XP_011517332.1:p.Glu365Lys | |
| XM_011519031.1:c.880G>A | XP_011517333.1:p.Glu294Lys | |
| XM_011519032.1:c.880G>A | XP_011517334.1:p.Glu294Lys | |
| XM_011519033.1:c.3154G>A | XP_011517335.1:p.Glu1052Lys | |
| XR_930459.1:n.5297-1436C>T | ||
| NM_001354263.1:c.3289G>A | NP_001341192.1:p.Glu1097Lys | |
| XM_005266105.5:c.3301G>A | XP_005266162.1:p.Glu1101Lys | |
| XM_011519021.3:c.3319G>A | XP_011517323.1:p.Glu1107Lys | |
| XM_011519022.3:c.3316G>A | XP_011517324.1:p.Glu1106Lys | |
| XM_011519023.3:c.3298G>A | XP_011517325.1:p.Glu1100Lys | |
| XM_011519029.3:c.1741G>A | XP_011517331.1:p.Glu581Lys | |
| XM_011519030.3:c.1093G>A | XP_011517332.1:p.Glu365Lys | |
| XM_017015134.1:c.3295G>A | XP_016870623.1:p.Glu1099Lys | |
| XM_017015136.2:c.3211G>A | XP_016870625.1:p.Glu1071Lys | |
| XM_017015137.1:c.3196G>A | XP_016870626.1:p.Glu1066Lys | |
| XM_017015138.1:c.3196G>A | XP_016870627.1:p.Glu1066Lys | |
| XM_024447674.1:c.3139G>A | XP_024303442.1:p.Glu1047Lys | |
| XM_024447675.1:c.3073G>A | XP_024303443.1:p.Glu1025Lys | |
| XM_024447676.1:c.2434G>A | XP_024303444.1:p.Glu812Lys | |
| XM_024447677.1:c.2434G>A | XP_024303445.1:p.Glu812Lys | |
| XM_024447680.1:c.3052G>A | XP_024303448.1:p.Glu1018Lys | |
| NM_024757.5:c.3310G>A MANE Select | NP_079033.4:p.Glu1104Lys | |
| NM_001354263.2:c.3289G>A | NP_001341192.1:p.Glu1097Lys |