Linked Data
ClinVar Variation Id:
136727
ClinVar RCV Id:
RCV000124244
RCV000266641
RCV000297299
RCV000262275
RCV000321698
RCV000361419
RCV000475858
RCV001274128
RCV002294036
RCV002505080
dbSNP Id:
rs142742071
ExAC:
12:88512352 A / G
gnomAD v2:
12-88512352-A-G
gnomAD v3:
12-88118575-A-G
gnomAD v4:
12-88118575-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88118575A>G , CM000674.2:g.88118575A>G | GRCh38 |
| NC_000012.11:g.88512352A>G , CM000674.1:g.88512352A>G | GRCh37 |
| NC_000012.10:g.87036483A>G | NCBI36 |
| NG_008417.1:g.28642T>C | |
| NG_008417.2:g.28642T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.1624-5T>C | ENSP00000308021.8:n.1624-5T>C | |
| ENST00000397838.8:c.1570-5T>C | ENSP00000380938.5:n.1570-5T>C | |
| ENST00000547926.7:c.1624-5T>C | ENSP00000448573.3:n.1624-5T>C | |
| ENST00000552810.6:c.1624-5T>C MANE Select | ENSP00000448012.1:n.1624-5T>C | |
| ENST00000671822.2:n.3288T>C | ||
| ENST00000672414.2:c.1624-5T>C | ENSP00000500729.1:n.1624-5T>C | |
| ENST00000673058.2:c.1624-5T>C | ENSP00000500665.2:n.1624-5T>C | |
| ENST00000674971.1:c.1624-5T>C | ENSP00000502194.1:n.1624-5T>C | |
| ENST00000675230.1:c.1603-5T>C | ENSP00000502503.1:n.1603-5T>C | |
| ENST00000675408.1:c.1624-5T>C | ENSP00000502298.1:n.1624-5T>C | |
| ENST00000675476.1:c.1624-5T>C | ENSP00000502161.1:n.1624-5T>C | |
| ENST00000675559.1:c.*170-5T>C | ENSP00000502163.1:n.*170-5T>C | |
| ENST00000675628.1:n.1851-5T>C | ||
| ENST00000675794.1:c.1624-5T>C | ENSP00000502841.1:n.1624-5T>C | |
| ENST00000675833.1:c.1624-5T>C | ENSP00000502559.1:n.1624-5T>C | |
| ENST00000676074.1:c.1624-5T>C | ENSP00000502079.1:n.1624-5T>C | |
| ENST00000676351.1:c.*2574T>C | ENSP00000502046.1:n.*2574T>C | |
| ENST00000676363.1:n.3687-5T>C | ||
| ENST00000676418.1:c.*81-5T>C | ENSP00000502371.1:n.*81-5T>C | |
| ENST00000676448.1:c.1624-5T>C | ENSP00000501987.1:n.1624-5T>C | |
| ENST00000309041.11:c.1630-5T>C | ENSP00000308021.7:n.1630-5T>C | |
| ENST00000397838.7:c.1630-5T>C | ENSP00000380938.4:n.1630-5T>C | |
| ENST00000547926.6:c.1522-5T>C | ENSP00000448573.2:n.1522-5T>C | |
| ENST00000552810.5:c.1624-5T>C | ENSP00000448012.1:n.1624-5T>C | |
| ENST00000604024.5:c.790-5T>C | ENSP00000473863.1:n.790-5T>C | |
| NM_025114.3:c.1624-5T>C | NP_079390.3:n.1624-5T>C | |
| XM_011538756.1:c.1624-5T>C | XP_011537058.1:n.1624-5T>C | |
| XM_011538757.1:c.1624-5T>C | XP_011537059.1:n.1624-5T>C | |
| XM_011538758.1:c.1624-5T>C | XP_011537060.1:n.1624-5T>C | |
| XM_011538759.1:c.1624-5T>C | XP_011537061.1:n.1624-5T>C | |
| XM_011538760.1:c.1624-5T>C | XP_011537062.1:n.1624-5T>C | |
| XM_011538761.1:c.1624-5T>C | XP_011537063.1:n.1624-5T>C | |
| XM_011538762.1:c.1624-5T>C | XP_011537064.1:n.1624-5T>C | |
| XM_011538763.1:c.1624-5T>C | XP_011537065.1:n.1624-5T>C | |
| XM_011538764.1:c.1624-5T>C | XP_011537066.1:n.1624-5T>C | |
| XM_011538765.1:c.1624-5T>C | XP_011537067.1:n.1624-5T>C | |
| XM_011538766.1:c.85-5T>C | XP_011537068.1:n.85-5T>C | |
| XM_011538756.3:c.1624-5T>C | XP_011537058.1:n.1624-5T>C | |
| XM_011538757.3:c.1624-5T>C | XP_011537059.1:n.1624-5T>C | |
| XM_011538758.3:c.1624-5T>C | XP_011537060.1:n.1624-5T>C | |
| XM_011538759.2:c.1624-5T>C | XP_011537061.1:n.1624-5T>C | |
| XM_011538760.2:c.1624-5T>C | XP_011537062.1:n.1624-5T>C | |
| XM_011538761.2:c.1624-5T>C | XP_011537063.1:n.1624-5T>C | |
| XM_011538762.3:c.1624-5T>C | XP_011537064.1:n.1624-5T>C | |
| XM_011538763.3:c.1624-5T>C | XP_011537065.1:n.1624-5T>C | |
| XM_011538764.3:c.1624-5T>C | XP_011537066.1:n.1624-5T>C | |
| XM_011538765.3:c.1624-5T>C | XP_011537067.1:n.1624-5T>C | |
| XM_011538766.3:c.85-5T>C | XP_011537068.1:n.85-5T>C | |
| XM_017019980.2:c.1624-5T>C | XP_016875469.1:n.1624-5T>C | |
| XM_017019981.2:c.1624-5T>C | XP_016875470.1:n.1624-5T>C | |
| XM_017019982.1:c.1624-5T>C | XP_016875471.1:n.1624-5T>C | |
| XM_017019983.2:c.1603-5T>C | XP_016875472.1:n.1603-5T>C | |
| XR_001748869.1:n.1968-5T>C | ||
| XR_001748870.2:n.1968-5T>C | ||
| NM_025114.4:c.1624-5T>C MANE Select | NP_079390.3:n.1624-5T>C |