Linked Data
dbSNP Id:
rs1242412758
gnomAD v2:
7-1083848-C-A
gnomAD v3:
7-1044212-C-A
gnomAD v4:
7-1044212-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1044212C>A , CM000669.2:g.1044212C>A | GRCh38 |
| NC_000007.13:g.1083848C>A , CM000669.1:g.1083848C>A | GRCh37 |
| NC_000007.12:g.1050374C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397098.8:c.130-34069G>T MANE Select | ENSP00000380286.3:n.130-34069G>T | |
| ENST00000357429.10:c.130-34069G>T | ENSP00000350011.5:n.130-34069G>T | |
| ENST00000397098.7:c.130-34069G>T | ENSP00000380286.3:n.130-34069G>T | |
| ENST00000397100.6:c.130-34069G>T | ENSP00000380288.2:n.130-34069G>T | |
| ENST00000444428.5:c.33+11062G>T | ENSP00000396542.1:n.33+11062G>T | |
| ENST00000488073.1:n.267-34069G>T | ||
| ENST00000491163.1:c.130-34069G>T | ENSP00000420130.1:n.130-34069G>T | |
| NM_001134395.1:c.130-34069G>T | NP_001127867.1:n.130-34069G>T | |
| NM_001134396.1:c.130-34069G>T | NP_001127868.1:n.130-34069G>T | |
| NM_032350.5:c.130-34069G>T | NP_115726.1:n.130-34069G>T | |
| XM_005249888.3:c.130-34069G>T | XP_005249945.1:n.130-34069G>T | |
| XM_011515581.1:c.130-34069G>T | XP_011513883.1:n.130-34069G>T | |
| XM_011515582.1:c.130-34069G>T | XP_011513884.1:n.130-34069G>T | |
| XM_011515583.1:c.130-34069G>T | XP_011513885.1:n.130-34069G>T | |
| XM_011515584.1:c.130-34069G>T | XP_011513886.1:n.130-34069G>T | |
| NM_001318252.1:c.130-34069G>T | NP_001305181.1:n.130-34069G>T | |
| NM_001350968.1:c.130-34069G>T | NP_001337897.1:n.130-34069G>T | |
| XM_011515581.3:c.130-34069G>T | XP_011513883.1:n.130-34069G>T | |
| XM_011515582.3:c.130-34069G>T | XP_011513884.1:n.130-34069G>T | |
| XM_011515583.2:c.130-34069G>T | XP_011513885.1:n.130-34069G>T | |
| XM_011515584.2:c.130-34069G>T | XP_011513886.1:n.130-34069G>T | |
| XM_017012720.2:c.130-34069G>T | XP_016868209.1:n.130-34069G>T | |
| XM_017012721.2:c.-144-22621G>T | XP_016868210.1:n.-144-22621G>T | |
| XM_024446977.1:c.130-34069G>T | XP_024302745.1:n.130-34069G>T | |
| XM_024446978.1:c.-144-22621G>T | XP_024302746.1:n.-144-22621G>T | |
| NM_001318252.2:c.130-34069G>T MANE Select | NP_001305181.1:n.130-34069G>T |