Linked Data
ClinVar Variation Id:
1207288
ClinVar RCV Id:
RCV001575228
dbSNP Id:
rs7642301
gnomAD v2:
3-128621640-G-A
gnomAD v3:
3-128902797-G-A
gnomAD v4:
3-128902797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128902797G>A , CM000665.2:g.128902797G>A | GRCh38 |
| NC_000003.11:g.128621640G>A , CM000665.1:g.128621640G>A | GRCh37 |
| NC_000003.10:g.130104330G>A | NCBI36 |
| NG_017064.1:g.28308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.958+169G>A MANE Select | ENSP00000312618.7:n.958+169G>A | |
| ENST00000511325.2:n.1036+169G>A | ||
| ENST00000679399.1:c.*852+169G>A | ENSP00000505434.1:n.*852+169G>A | |
| ENST00000679431.1:c.*834+165G>A | ENSP00000506440.1:n.*834+165G>A | |
| ENST00000679613.1:c.958+169G>A | ENSP00000504971.1:n.958+169G>A | |
| ENST00000679715.1:c.589+169G>A | ENSP00000506228.1:n.589+169G>A | |
| ENST00000679824.1:c.*2264+169G>A | ENSP00000505516.1:n.*2264+169G>A | |
| ENST00000679990.1:n.1193+169G>A | ||
| ENST00000680636.1:c.958+169G>A | ENSP00000504886.1:n.958+169G>A | |
| ENST00000680744.1:c.*311+169G>A | ENSP00000505243.1:n.*311+169G>A | |
| ENST00000680764.1:c.*2362+165G>A | ENSP00000505126.1:n.*2362+165G>A | |
| ENST00000681319.1:n.1036+169G>A | ||
| ENST00000681367.1:c.958+169G>A | ENSP00000505309.1:n.958+169G>A | |
| ENST00000681552.1:c.958+169G>A | ENSP00000505699.1:n.958+169G>A | |
| ENST00000681583.1:c.958+169G>A | ENSP00000506340.1:n.958+169G>A | |
| ENST00000681585.1:c.958+169G>A | ENSP00000506316.1:n.958+169G>A | |
| ENST00000681589.1:n.1172+169G>A | ||
| ENST00000681784.1:n.1036+169G>A | ||
| ENST00000681886.1:c.*151+169G>A | ENSP00000506500.1:n.*151+169G>A | |
| ENST00000308982.11:c.958+169G>A | ENSP00000312618.7:n.958+169G>A | |
| ENST00000505192.5:c.*654+169G>A | ENSP00000426277.1:n.*654+169G>A | |
| ENST00000505867.5:c.*758+169G>A | ENSP00000425346.1:n.*758+169G>A | |
| ENST00000508971.1:c.247+169G>A | ENSP00000422683.1:n.247+169G>A | |
| ENST00000511227.5:c.*852+169G>A | ENSP00000425226.1:n.*852+169G>A | |
| ENST00000511526.5:n.463+165G>A | ||
| NM_014049.4:c.958+169G>A | NP_054768.2:n.958+169G>A | |
| NR_033426.1:n.1336+169G>A | ||
| XM_011512742.1:c.589+169G>A | XP_011511044.1:n.589+169G>A | |
| XR_427367.1:n.1034+165G>A | ||
| XM_024453484.1:c.589+169G>A | XP_024309252.1:n.589+169G>A | |
| XM_024453485.1:c.589+169G>A | XP_024309253.1:n.589+169G>A | |
| XR_427367.3:n.1034+165G>A | ||
| NM_014049.5:c.958+169G>A MANE Select | NP_054768.2:n.958+169G>A | |
| NR_033426.2:n.1206+169G>A |