Linked Data
dbSNP Id:
rs760942676
ExAC:
12:39726387 C / T
gnomAD v2:
12-39726387-C-T
gnomAD v3:
12-39332585-C-T
gnomAD v4:
12-39332585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39332585C>T , CM000674.2:g.39332585C>T | GRCh38 |
| NC_000012.11:g.39726387C>T , CM000674.1:g.39726387C>T | GRCh37 |
| NC_000012.10:g.38012654C>T | NCBI36 |
| NG_017067.1:g.115806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.2856+6G>A MANE Select | ENSP00000354878.5:n.2856+6G>A | |
| ENST00000636569.1:c.2790+6G>A | ENSP00000490369.1:n.2790+6G>A | |
| ENST00000361418.9:c.2856+6G>A | ENSP00000354878.5:n.2856+6G>A | |
| ENST00000361961.7:c.2817+6G>A | ENSP00000354851.3:n.2817+6G>A | |
| ENST00000541463.6:c.2748+6G>A | ENSP00000438075.2:n.2748+6G>A | |
| ENST00000544797.6:c.2817+6G>A | ENSP00000445606.2:n.2817+6G>A | |
| ENST00000547108.5:c.629+6G>A | ||
| ENST00000552961.5:c.899+6G>A | ||
| NM_001173463.1:c.2817+6G>A | NP_001166934.1:n.2817+6G>A | |
| NM_001173464.1:c.2856+6G>A | NP_001166935.1:n.2856+6G>A | |
| NM_001173465.1:c.2748+6G>A | NP_001166936.1:n.2748+6G>A | |
| NM_017641.3:c.2817+6G>A | NP_060111.2:n.2817+6G>A | |
| XM_005269007.1:c.2856+6G>A | XP_005269064.1:n.2856+6G>A | |
| XM_005269008.1:c.2856+6G>A | XP_005269065.1:n.2856+6G>A | |
| XM_005269009.1:c.2856+6G>A | XP_005269066.1:n.2856+6G>A | |
| XM_005269010.1:c.2817+6G>A | XP_005269067.1:n.2817+6G>A | |
| XM_005269011.1:c.2856+6G>A | XP_005269068.1:n.2856+6G>A | |
| XM_005269012.1:c.2856+6G>A | XP_005269069.1:n.2856+6G>A | |
| XM_005269013.1:c.2856+6G>A | XP_005269070.1:n.2856+6G>A | |
| XM_005269014.1:c.2856+6G>A | XP_005269071.1:n.2856+6G>A | |
| XM_006719493.1:c.2817+6G>A | XP_006719556.1:n.2817+6G>A | |
| XM_006719494.1:c.2856+6G>A | XP_006719557.1:n.2856+6G>A | |
| XM_006719496.1:c.2817+6G>A | XP_006719559.1:n.2817+6G>A | |
| XM_011538556.1:c.2787+6G>A | XP_011536858.1:n.2787+6G>A | |
| XR_429108.1:n.3188+6G>A | ||
| XM_005269007.3:c.2856+6G>A | XP_005269064.1:n.2856+6G>A | |
| XM_005269008.3:c.2856+6G>A | XP_005269065.1:n.2856+6G>A | |
| XM_005269009.3:c.2856+6G>A | XP_005269066.1:n.2856+6G>A | |
| XM_005269010.3:c.2817+6G>A | XP_005269067.1:n.2817+6G>A | |
| XM_005269011.3:c.2856+6G>A | XP_005269068.1:n.2856+6G>A | |
| XM_005269012.3:c.2856+6G>A | XP_005269069.1:n.2856+6G>A | |
| XM_005269013.3:c.2856+6G>A | XP_005269070.1:n.2856+6G>A | |
| XM_005269014.3:c.2856+6G>A | XP_005269071.1:n.2856+6G>A | |
| XM_006719493.3:c.2817+6G>A | XP_006719556.1:n.2817+6G>A | |
| XM_006719494.3:c.2856+6G>A | XP_006719557.1:n.2856+6G>A | |
| XM_011538556.3:c.2787+6G>A | XP_011536858.1:n.2787+6G>A | |
| XM_017019607.2:c.2817+6G>A | XP_016875096.1:n.2817+6G>A | |
| XM_017019608.2:c.2817+6G>A | XP_016875097.1:n.2817+6G>A | |
| XM_017019609.2:c.2817+6G>A | XP_016875098.1:n.2817+6G>A | |
| XM_017019610.2:c.2856+6G>A | XP_016875099.1:n.2856+6G>A | |
| XM_017019611.2:c.2817+6G>A | XP_016875100.1:n.2817+6G>A | |
| NM_001173463.2:c.2817+6G>A | NP_001166934.1:n.2817+6G>A | |
| NM_001173464.2:c.2856+6G>A MANE Select | NP_001166935.1:n.2856+6G>A | |
| NM_001173465.2:c.2748+6G>A | NP_001166936.1:n.2748+6G>A | |
| NM_017641.4:c.2817+6G>A | NP_060111.2:n.2817+6G>A | |
| NM_001378439.1:c.2856+6G>A | NP_001365368.1:n.2856+6G>A | |
| NM_001378440.1:c.2856+6G>A | NP_001365369.1:n.2856+6G>A | |
| NM_001378441.1:c.2817+6G>A | NP_001365370.1:n.2817+6G>A |