Linked Data
ClinVar Variation Id:
195380
dbSNP Id:
rs373269573
ExAC:
9:140605467 G / A
gnomAD v2:
9-140605467-G-A
gnomAD v3:
9-137711015-G-A
gnomAD v4:
9-137711015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137711015G>A , CM000671.2:g.137711015G>A | GRCh38 |
| NC_000009.11:g.140605467G>A , CM000671.1:g.140605467G>A | GRCh37 |
| NC_000009.10:g.139725288G>A | NCBI36 |
| NG_011776.1:g.97024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.70G>A MANE Select | ENSP00000417980.1:p.Glu24Lys | |
| ENST00000629335.2:c.70G>A | ENSP00000490056.1:p.Glu24Lys | |
| ENST00000636027.1:c.-24G>A | ENSP00000489961.1:n.-24G>A | |
| ENST00000636186.1:n.97G>A | ||
| ENST00000637161.1:c.-24G>A | ENSP00000490328.1:n.-24G>A | |
| ENST00000637261.1:c.46G>A | ENSP00000490815.1:p.Glu16Lys | |
| ENST00000637335.1:n.71G>A | ||
| ENST00000637662.1:n.74G>A | ||
| ENST00000637977.1:c.15G>A | ||
| ENST00000371394.6:c.22-5611G>A | ENSP00000485945.1:n.22-5611G>A | |
| ENST00000460486.3:c.181G>A | ENSP00000486969.1:p.Glu61Lys | |
| ENST00000460843.5:c.70G>A | ENSP00000417980.1:p.Glu24Lys | |
| ENST00000462484.5:c.70G>A | ENSP00000417328.1:p.Glu24Lys | |
| ENST00000492232.5:c.-24G>A | ENSP00000486580.1:n.-24G>A | |
| ENST00000626216.2:c.-24G>A | ENSP00000485878.1:n.-24G>A | |
| ENST00000629417.1:c.-24G>A | ENSP00000486857.1:n.-24G>A | |
| ENST00000630754.2:c.-24G>A | ENSP00000485933.1:n.-24G>A | |
| NM_001145527.1:c.70G>A | NP_001138999.1:p.Glu24Lys | |
| NM_024757.4:c.70G>A | NP_079033.4:p.Glu24Lys | |
| XM_005266105.3:c.61G>A | XP_005266162.1:p.Glu21Lys | |
| XM_005266110.1:c.-8-5611G>A | XP_005266167.1:n.-8-5611G>A | |
| XM_006717288.2:c.52G>A | XP_006717351.1:p.Glu18Lys | |
| XM_011519021.1:c.79G>A | XP_011517323.1:p.Glu27Lys | |
| XM_011519022.1:c.76G>A | XP_011517324.1:p.Glu26Lys | |
| XM_011519023.1:c.79G>A | XP_011517325.1:p.Glu27Lys | |
| XM_011519024.1:c.79G>A | XP_011517326.1:p.Glu27Lys | |
| XM_011519025.1:c.-24G>A | XP_011517327.1:n.-24G>A | |
| XM_011519026.1:c.79G>A | XP_011517328.1:p.Glu27Lys | |
| XM_011519027.1:c.79G>A | XP_011517329.1:p.Glu27Lys | |
| XM_011519028.1:c.79G>A | XP_011517330.1:p.Glu27Lys | |
| XM_011519033.1:c.79G>A | XP_011517335.1:p.Glu27Lys | |
| NM_001354259.1:c.-8-5611G>A | NP_001341188.1:n.-8-5611G>A | |
| NM_001354263.1:c.70G>A | NP_001341192.1:p.Glu24Lys | |
| NM_001354611.1:c.70G>A | NP_001341540.1:p.Glu24Lys | |
| NM_001354612.1:c.-8-5611G>A | NP_001341541.1:n.-8-5611G>A | |
| XM_005266105.5:c.61G>A | XP_005266162.1:p.Glu21Lys | |
| XM_011519021.3:c.79G>A | XP_011517323.1:p.Glu27Lys | |
| XM_011519022.3:c.76G>A | XP_011517324.1:p.Glu26Lys | |
| XM_011519023.3:c.79G>A | XP_011517325.1:p.Glu27Lys | |
| XM_017015134.1:c.76G>A | XP_016870623.1:p.Glu26Lys | |
| XM_017015136.2:c.70G>A | XP_016870625.1:p.Glu24Lys | |
| XM_017015137.1:c.-24G>A | XP_016870626.1:n.-24G>A | |
| XM_017015138.1:c.-8-5611G>A | XP_016870627.1:n.-8-5611G>A | |
| XM_024447674.1:c.-24G>A | XP_024303442.1:n.-24G>A | |
| XM_024447675.1:c.-24G>A | XP_024303443.1:n.-24G>A | |
| XM_024447678.1:c.-24G>A | XP_024303446.1:n.-24G>A | |
| XM_024447679.1:c.-24G>A | XP_024303447.1:n.-24G>A | |
| XM_024447680.1:c.-24G>A | XP_024303448.1:n.-24G>A | |
| NM_024757.5:c.70G>A MANE Select | NP_079033.4:p.Glu24Lys | |
| NM_001145527.2:c.70G>A | NP_001138999.1:p.Glu24Lys | |
| NM_001354259.2:c.-8-5611G>A | NP_001341188.1:n.-8-5611G>A | |
| NM_001354263.2:c.70G>A | NP_001341192.1:p.Glu24Lys | |
| NM_001354611.2:c.70G>A | NP_001341540.1:p.Glu24Lys | |
| NM_001354612.2:c.-8-5611G>A | NP_001341541.1:n.-8-5611G>A |