Linked Data
ClinVar Variation Id:
393044
ClinVar RCV Id:
RCV000419915
dbSNP Id:
rs1057524755
gnomAD v3:
18-46524602-C-T
gnomAD v4:
18-46524602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46524602C>T , CM000680.2:g.46524602C>T | GRCh38 |
| NC_000018.9:g.44104565C>T , CM000680.1:g.44104565C>T | GRCh37 |
| NC_000018.8:g.42358563C>T | NCBI36 |
| NG_016646.1:g.137432G>A | |
| NG_016646.2:g.137432G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300591.11:c.1408-1G>A | ENSP00000300591.6:n.1408-1G>A | |
| ENST00000579038.6:c.1120-1G>A | ENSP00000463285.1:n.1120-1G>A | |
| ENST00000582408.6:c.1408-1G>A | ENSP00000461964.1:n.1408-1G>A | |
| ENST00000642948.1:c.4741-1G>A MANE Select | ENSP00000496347.1:n.4741-1G>A | |
| ENST00000300591.10:c.1408-1G>A | ENSP00000300591.6:n.1408-1G>A | |
| ENST00000335730.6:n.4054-1G>A | ||
| ENST00000441551.6:c.4123-1G>A | ENSP00000387621.2:n.4123-1G>A | |
| ENST00000536736.5:c.4741-1G>A | ENSP00000444586.1:n.4741-1G>A | |
| ENST00000579038.5:c.1120-1G>A | ENSP00000463285.1:n.1120-1G>A | |
| ENST00000582408.5:c.1408-1G>A | ENSP00000461964.1:n.1408-1G>A | |
| NM_001145472.2:c.1408-1G>A | NP_001138944.1:n.1408-1G>A | |
| NM_001308013.1:c.1120-1G>A | NP_001294942.1:n.1120-1G>A | |
| NM_144612.6:c.4741-1G>A | NP_653213.6:n.4741-1G>A | |
| XM_006722388.2:c.1540-1G>A | XP_006722451.1:n.1540-1G>A | |
| XM_006722389.2:c.1408-1G>A | XP_006722452.1:n.1408-1G>A | |
| XM_006722390.2:c.1408-1G>A | XP_006722453.1:n.1408-1G>A | |
| XM_006722391.2:c.1540-1G>A | XP_006722454.1:n.1540-1G>A | |
| XM_011525803.1:c.4741-1G>A | XP_011524105.1:n.4741-1G>A | |
| XM_011525804.1:c.2902-1G>A | XP_011524106.1:n.2902-1G>A | |
| XM_011525805.1:c.1405-1G>A | XP_011524107.1:n.1405-1G>A | |
| XM_011525806.1:c.1120-1G>A | XP_011524108.1:n.1120-1G>A | |
| XM_011525807.1:c.1120-1G>A | XP_011524109.1:n.1120-1G>A | |
| XM_011525809.1:c.1120-1G>A | XP_011524111.1:n.1120-1G>A | |
| XM_006722388.3:c.1540-1G>A | XP_006722451.1:n.1540-1G>A | |
| XM_006722389.3:c.1408-1G>A | XP_006722452.1:n.1408-1G>A | |
| XM_006722390.3:c.1408-1G>A | XP_006722453.1:n.1408-1G>A | |
| XM_006722391.3:c.1540-1G>A | XP_006722454.1:n.1540-1G>A | |
| XM_011525804.2:c.2902-1G>A | XP_011524106.1:n.2902-1G>A | |
| XM_017025548.1:c.4123-1G>A | XP_016881037.1:n.4123-1G>A | |
| XM_024451084.1:c.3223-1G>A | XP_024306852.1:n.3223-1G>A | |
| XM_024451085.1:c.1405-1G>A | XP_024306853.1:n.1405-1G>A | |
| XM_024451086.1:c.1120-1G>A | XP_024306854.1:n.1120-1G>A | |
| XM_024451087.1:c.1120-1G>A | XP_024306855.1:n.1120-1G>A | |
| XM_024451088.1:c.1120-1G>A | XP_024306856.1:n.1120-1G>A | |
| NM_001145472.3:c.1408-1G>A | NP_001138944.1:n.1408-1G>A | |
| NM_001308013.2:c.1120-1G>A | NP_001294942.1:n.1120-1G>A | |
| NM_001384474.1:c.4741-1G>A MANE Select | NP_001371403.1:n.4741-1G>A | |
| NM_144612.7:c.4741-1G>A | NP_653213.6:n.4741-1G>A |