Linked Data
dbSNP Id:
rs1900173
gnomAD v2:
5-55240006-A-T
gnomAD v3:
5-55944178-A-T
gnomAD v4:
5-55944178-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55944178A>T , CM000667.2:g.55944178A>T | GRCh38 |
| NC_000005.9:g.55240006A>T , CM000667.1:g.55240006A>T | GRCh37 |
| NC_000005.8:g.55275763A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381294.8:c.1755-1427T>A | ENSP00000370694.3:n.1755-1427T>A | |
| ENST00000506241.2:n.3279-1427T>A | ||
| ENST00000577363.2:c.*1343-1427T>A | ENSP00000513861.1:n.*1343-1427T>A | |
| ENST00000698638.1:c.1035-1427T>A | ENSP00000513851.1:n.1035-1427T>A | |
| ENST00000698639.1:c.1791-1427T>A | ENSP00000513852.1:n.1791-1427T>A | |
| ENST00000698640.1:c.1221-1427T>A | ENSP00000513853.1:n.1221-1427T>A | |
| ENST00000698641.1:c.*1160-1427T>A | ENSP00000513854.1:n.*1160-1427T>A | |
| ENST00000698642.1:c.*1389-1427T>A | ENSP00000513855.1:n.*1389-1427T>A | |
| ENST00000698643.1:c.*1260-1427T>A | ENSP00000513856.1:n.*1260-1427T>A | |
| ENST00000698644.1:c.1728-1427T>A | ENSP00000513857.1:n.1728-1427T>A | |
| ENST00000698645.1:c.1938-1427T>A | ENSP00000513858.1:n.1938-1427T>A | |
| ENST00000698646.1:c.1836-1427T>A | ENSP00000513859.1:n.1836-1427T>A | |
| ENST00000698647.1:c.*1557-1427T>A | ENSP00000513860.1:n.*1557-1427T>A | |
| ENST00000698648.1:c.*1343-1427T>A | ENSP00000513862.1:n.*1343-1427T>A | |
| ENST00000698649.1:n.90-1427T>A | ||
| ENST00000381298.7:c.1938-1427T>A MANE Select | ENSP00000370698.2:n.1938-1427T>A | |
| ENST00000651614.1:c.*890-1427T>A | ENSP00000498224.1:n.*890-1427T>A | |
| ENST00000336909.9:c.1938-1427T>A | ENSP00000338799.5:n.1938-1427T>A | |
| ENST00000381286.7:c.65-1427T>A | ENSP00000370686.3:n.65-1427T>A | |
| ENST00000381287.8:c.*865-1427T>A | ENSP00000370687.4:n.*865-1427T>A | |
| ENST00000381293.6:c.476-1427T>A | ENSP00000370693.2:n.476-1427T>A | |
| ENST00000381294.7:c.1755-1427T>A | ENSP00000370694.3:n.1755-1427T>A | |
| ENST00000381298.6:c.1938-1427T>A | ENSP00000370698.2:n.1938-1427T>A | |
| ENST00000502326.7:c.1938-1427T>A | ENSP00000462158.1:n.1938-1427T>A | |
| ENST00000503773.6:c.*982-1427T>A | ENSP00000426224.2:n.*982-1427T>A | |
| ENST00000523039.5:n.103-1427T>A | ||
| ENST00000583149.1:n.272-1427T>A | ||
| NM_001190981.1:c.1755-1427T>A | NP_001177910.1:n.1755-1427T>A | |
| NM_002184.3:c.1938-1427T>A | NP_002175.2:n.1938-1427T>A | |
| NM_175767.2:c.*865-1427T>A | NP_786943.1:n.*865-1427T>A | |
| NR_120480.1:n.2297-1427T>A | ||
| NM_001364275.1:c.1836-1427T>A | NP_001351204.1:n.1836-1427T>A | |
| NM_001364276.1:c.1728-1427T>A | NP_001351205.1:n.1728-1427T>A | |
| NM_001364277.1:c.1071-1427T>A | NP_001351206.1:n.1071-1427T>A | |
| NM_001364278.1:c.1035-1427T>A | NP_001351207.1:n.1035-1427T>A | |
| NM_001364279.1:c.942-1427T>A | NP_001351208.1:n.942-1427T>A | |
| NR_157112.1:n.3102-1427T>A | ||
| NM_002184.4:c.1938-1427T>A MANE Select | NP_002175.2:n.1938-1427T>A | |
| NM_001190981.2:c.1755-1427T>A | NP_001177910.1:n.1755-1427T>A | |
| NM_001364275.2:c.1836-1427T>A | NP_001351204.1:n.1836-1427T>A | |
| NM_001364276.2:c.1728-1427T>A | NP_001351205.1:n.1728-1427T>A | |
| NM_001364277.2:c.1071-1427T>A | NP_001351206.1:n.1071-1427T>A | |
| NM_001364278.2:c.1035-1427T>A | NP_001351207.1:n.1035-1427T>A | |
| NM_001364279.2:c.942-1427T>A | NP_001351208.1:n.942-1427T>A | |
| NM_175767.3:c.*865-1427T>A | NP_786943.1:n.*865-1427T>A | |
| NR_120480.2:n.2267-1427T>A | ||
| NR_157112.2:n.3102-1427T>A |