Linked Data
ClinVar Variation Id:
282949
ClinVar RCV Id:
RCV000273307
RCV000308460
RCV000330168
RCV000365568
RCV000400610
RCV000382061
RCV000725182
RCV001174119
RCV001085943
RCV004547674
dbSNP Id:
rs201815805
ExAC:
12:110232124 G / A
gnomAD v2:
12-110232124-G-A
gnomAD v3:
12-109794319-G-A
gnomAD v4:
12-109794319-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109794319G>A , CM000674.2:g.109794319G>A | GRCh38 |
| NC_000012.11:g.110232124G>A , CM000674.1:g.110232124G>A | GRCh37 |
| NC_000012.10:g.108716507G>A | NCBI36 |
| NG_017090.1:g.44089C>T , LRG_372:g.44089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1491+10C>T MANE Select | ENSP00000261740.2:n.1491+10C>T | |
| ENST00000418703.7:c.1491+10C>T | ENSP00000406191.2:n.1491+10C>T | |
| ENST00000674908.1:c.*578+10C>T | ENSP00000502012.1:n.*578+10C>T | |
| ENST00000675533.1:n.1522+10C>T | ||
| ENST00000675670.1:c.1491+10C>T | ENSP00000502135.1:n.1491+10C>T | |
| ENST00000676376.1:n.1522+10C>T | ||
| ENST00000261740.6:c.1491+10C>T | ENSP00000261740.2:n.1491+10C>T | |
| ENST00000418703.6:c.1491+10C>T | ENSP00000406191.2:n.1491+10C>T | |
| ENST00000536838.1:c.1389+10C>T | ENSP00000444336.1:n.1389+10C>T | |
| ENST00000537083.5:c.1311+10C>T | ENSP00000442738.1:n.1311+10C>T | |
| ENST00000538125.5:c.1491+10C>T | ENSP00000437449.1:n.1491+10C>T | |
| ENST00000541794.5:c.1350+10C>T | ENSP00000442167.1:n.1350+10C>T | |
| ENST00000544971.5:c.1170+10C>T | ENSP00000443611.1:n.1170+10C>T | |
| NM_001177428.1:c.1350+10C>T | NP_001170899.1:n.1350+10C>T | |
| NM_001177431.1:c.1389+10C>T | NP_001170902.1:n.1389+10C>T | |
| NM_001177433.1:c.1170+10C>T | NP_001170904.1:n.1170+10C>T | |
| NM_021625.4:c.1491+10C>T , LRG_372t1:c.1491+10C>T | NP_067638.3:n.1491+10C>T | |
| NM_147204.2:c.1311+10C>T | NP_671737.1:n.1311+10C>T | |
| XM_005253918.1:c.1491+10C>T | XP_005253975.1:n.1491+10C>T | |
| XM_011538630.1:c.1491+10C>T | XP_011536932.1:n.1491+10C>T | |
| XM_011538631.1:c.1350+10C>T | XP_011536933.1:n.1350+10C>T | |
| XM_011538632.1:c.1311+10C>T | XP_011536934.1:n.1311+10C>T | |
| XM_011538633.1:c.1170+10C>T | XP_011536935.1:n.1170+10C>T | |
| XM_011538634.1:c.1491+10C>T | XP_011536936.1:n.1491+10C>T | |
| XM_011538635.1:c.1644+10C>T | XP_011536937.1:n.1644+10C>T | |
| XM_011538636.1:c.1644+10C>T | XP_011536938.1:n.1644+10C>T | |
| XM_011538630.2:c.1644+10C>T | XP_011536932.2:n.1644+10C>T | |
| XM_011538631.2:c.1503+10C>T | XP_011536933.2:n.1503+10C>T | |
| XM_011538632.2:c.1464+10C>T | XP_011536934.2:n.1464+10C>T | |
| XM_011538633.2:c.1323+10C>T | XP_011536935.2:n.1323+10C>T | |
| XM_011538634.2:c.1644+10C>T | XP_011536936.2:n.1644+10C>T | |
| XM_011538635.2:c.1644+10C>T | XP_011536937.1:n.1644+10C>T | |
| XM_017019774.1:c.1491+10C>T | XP_016875263.1:n.1491+10C>T | |
| NM_021625.5:c.1491+10C>T MANE Select | NP_067638.3:n.1491+10C>T |