Linked Data
ClinVar Variation Id:
467770
ClinVar RCV Id:
RCV000526351
dbSNP Id:
rs778105019
ExAC:
8:75276279 G / A
gnomAD v2:
8-75276279-G-A
gnomAD v3:
8-74364044-G-A
gnomAD v4:
8-74364044-G-A
COSMIC:
COSM454840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74364044G>A , CM000670.2:g.74364044G>A | GRCh38 |
| NC_000008.10:g.75276279G>A , CM000670.1:g.75276279G>A | GRCh37 |
| NC_000008.9:g.75438834G>A | NCBI36 |
| NG_008787.2:g.47915G>A | |
| NG_008787.3:g.47915G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220822.12:c.754G>A MANE Select | ENSP00000220822.7:p.Ala252Thr | |
| ENST00000434412.3:c.622G>A | ENSP00000417006.3:p.Ala208Thr | |
| ENST00000520797.6:n.865G>A | ||
| ENST00000521096.6:n.610G>A | ||
| ENST00000522568.2:c.*426G>A | ENSP00000430136.1:n.*426G>A | |
| ENST00000523640.2:c.165+12723G>A | ENSP00000502017.1:n.165+12723G>A | |
| ENST00000524195.2:c.280+991G>A | ENSP00000502308.1:n.280+991G>A | |
| ENST00000674612.1:c.427G>A | ENSP00000501864.1:p.Ala143Thr | |
| ENST00000674710.1:c.694+991G>A | ENSP00000502762.1:n.694+991G>A | |
| ENST00000674754.1:c.*2317G>A | ENSP00000502063.1:n.*2317G>A | |
| ENST00000674756.1:c.*366+991G>A | ENSP00000501860.1:n.*366+991G>A | |
| ENST00000674806.1:c.427G>A | ENSP00000502637.1:p.Ala143Thr | |
| ENST00000674865.1:c.550G>A | ENSP00000502437.1:p.Ala184Thr | |
| ENST00000674926.1:c.*1386G>A | ENSP00000501799.1:n.*1386G>A | |
| ENST00000674934.1:c.*442G>A | ENSP00000502187.1:n.*442G>A | |
| ENST00000674944.1:c.*1357G>A | ENSP00000501858.1:n.*1357G>A | |
| ENST00000674946.1:c.694+991G>A | ENSP00000501569.1:n.694+991G>A | |
| ENST00000674973.1:c.448G>A | ENSP00000502447.1:p.Ala150Thr | |
| ENST00000675007.1:c.*492G>A | ENSP00000502119.1:n.*492G>A | |
| ENST00000675060.1:c.*419G>A | ENSP00000501616.1:n.*419G>A | |
| ENST00000675165.1:c.751G>A | ENSP00000502612.1:p.Ala251Thr | |
| ENST00000675220.1:c.427G>A | ENSP00000502588.1:p.Ala143Thr | |
| ENST00000675265.1:c.*504G>A | ENSP00000501848.1:n.*504G>A | |
| ENST00000675336.1:c.*240G>A | ENSP00000502120.1:n.*240G>A | |
| ENST00000675376.1:c.427G>A | ENSP00000502838.1:p.Ala143Thr | |
| ENST00000675463.1:c.832G>A | ENSP00000502327.1:p.Ala278Thr | |
| ENST00000675472.1:c.*240G>A | ENSP00000501946.1:n.*240G>A | |
| ENST00000675474.1:n.339G>A | ||
| ENST00000675560.1:c.*366+991G>A | ENSP00000502118.1:n.*366+991G>A | |
| ENST00000675625.1:c.*426G>A | ENSP00000501626.1:n.*426G>A | |
| ENST00000675633.1:c.*161G>A | ENSP00000501785.1:n.*161G>A | |
| ENST00000675661.1:c.*514G>A | ENSP00000501958.1:n.*514G>A | |
| ENST00000675706.1:n.2712G>A | ||
| ENST00000675821.1:c.427G>A | ENSP00000502198.1:p.Ala143Thr | |
| ENST00000675832.1:c.*426G>A | ENSP00000502041.1:n.*426G>A | |
| ENST00000675928.1:c.580G>A | ENSP00000501568.1:p.Ala194Thr | |
| ENST00000675944.1:c.550G>A | ENSP00000502673.1:p.Ala184Thr | |
| ENST00000675999.1:c.694+991G>A | ENSP00000502572.1:n.694+991G>A | |
| ENST00000676049.1:c.*656G>A | ENSP00000501912.1:n.*656G>A | |
| ENST00000676112.1:c.820G>A | ENSP00000502295.1:p.Ala274Thr | |
| ENST00000676143.1:c.427G>A | ENSP00000502828.1:p.Ala143Thr | |
| ENST00000676207.1:c.694+991G>A | ENSP00000502638.1:n.694+991G>A | |
| ENST00000676377.1:c.427G>A | ENSP00000502756.1:p.Ala143Thr | |
| ENST00000676415.1:c.*60G>A | ENSP00000502665.1:n.*60G>A | |
| ENST00000676443.1:c.706G>A | ENSP00000501769.1:p.Ala236Thr | |
| ENST00000220822.11:c.754G>A | ENSP00000220822.7:p.Ala252Thr | |
| ENST00000434412.2:c.550G>A | ENSP00000417006.2:p.Ala184Thr | |
| ENST00000520797.5:n.519G>A | ||
| ENST00000521096.5:n.560G>A | ||
| ENST00000522568.1:c.*426G>A | ENSP00000430136.1:n.*426G>A | |
| ENST00000524195.1:n.103+991G>A | ||
| NM_001040875.2:c.550G>A | NP_001035808.1:p.Ala184Thr | |
| NM_018972.2:c.754G>A | NP_061845.2:p.Ala252Thr | |
| NR_046346.1:n.688G>A | ||
| XM_011517551.1:c.1048G>A | XP_011515853.1:p.Ala350Thr | |
| XM_011517552.1:c.427G>A | XP_011515854.1:p.Ala143Thr | |
| NM_001040875.3:c.550G>A | NP_001035808.1:p.Ala184Thr | |
| NM_001362929.1:c.427G>A | NP_001349858.1:p.Ala143Thr | |
| NM_001362930.1:c.580G>A | NP_001349859.1:p.Ala194Thr | |
| NM_001362931.1:c.694+991G>A | NP_001349860.1:n.694+991G>A | |
| NM_001362932.1:c.427G>A | NP_001349861.1:p.Ala143Thr | |
| NM_018972.3:c.754G>A | NP_061845.2:p.Ala252Thr | |
| NM_001362931.2:c.694+991G>A | NP_001349860.1:n.694+991G>A | |
| NM_018972.4:c.754G>A MANE Select | NP_061845.2:p.Ala252Thr | |
| NM_001040875.4:c.550G>A | NP_001035808.1:p.Ala184Thr | |
| NM_001362929.2:c.427G>A | NP_001349858.1:p.Ala143Thr | |
| NM_001362930.2:c.580G>A | NP_001349859.1:p.Ala194Thr | |
| NM_001362932.2:c.427G>A | NP_001349861.1:p.Ala143Thr |