Linked Data
ClinVar Variation Id:
643628
dbSNP Id:
rs889110926
gnomAD v2:
18-44114297-C-T
gnomAD v3:
18-46534334-C-T
gnomAD v4:
18-46534334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46534334C>T , CM000680.2:g.46534334C>T | GRCh38 |
| NC_000018.9:g.44114297C>T , CM000680.1:g.44114297C>T | GRCh37 |
| NC_000018.8:g.42368295C>T | NCBI36 |
| NG_016646.1:g.127700G>A | |
| NG_016646.2:g.127700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300591.11:c.879+1G>A | ENSP00000300591.6:n.879+1G>A | |
| ENST00000579038.6:c.591+1G>A | ENSP00000463285.1:n.591+1G>A | |
| ENST00000582408.6:c.879+1G>A | ENSP00000461964.1:n.879+1G>A | |
| ENST00000642948.1:c.4212+1G>A MANE Select | ENSP00000496347.1:n.4212+1G>A | |
| ENST00000300591.10:c.879+1G>A | ENSP00000300591.6:n.879+1G>A | |
| ENST00000335730.6:n.3525+1G>A | ||
| ENST00000441551.6:c.3594+1G>A | ENSP00000387621.2:n.3594+1G>A | |
| ENST00000536111.1:c.918+1G>A | ENSP00000440060.1:n.918+1G>A | |
| ENST00000536736.5:c.4212+1G>A | ENSP00000444586.1:n.4212+1G>A | |
| ENST00000579038.5:c.591+1G>A | ENSP00000463285.1:n.591+1G>A | |
| ENST00000582408.5:c.879+1G>A | ENSP00000461964.1:n.879+1G>A | |
| NM_001145472.2:c.879+1G>A | NP_001138944.1:n.879+1G>A | |
| NM_001308013.1:c.591+1G>A | NP_001294942.1:n.591+1G>A | |
| NM_144612.6:c.4212+1G>A | NP_653213.6:n.4212+1G>A | |
| XM_006722388.2:c.1011+1G>A | XP_006722451.1:n.1011+1G>A | |
| XM_006722389.2:c.879+1G>A | XP_006722452.1:n.879+1G>A | |
| XM_006722390.2:c.879+1G>A | XP_006722453.1:n.879+1G>A | |
| XM_006722391.2:c.1011+1G>A | XP_006722454.1:n.1011+1G>A | |
| XM_011525803.1:c.4212+1G>A | XP_011524105.1:n.4212+1G>A | |
| XM_011525804.1:c.2373+1G>A | XP_011524106.1:n.2373+1G>A | |
| XM_011525805.1:c.876+1G>A | XP_011524107.1:n.876+1G>A | |
| XM_011525806.1:c.591+1G>A | XP_011524108.1:n.591+1G>A | |
| XM_011525807.1:c.591+1G>A | XP_011524109.1:n.591+1G>A | |
| XM_011525809.1:c.591+1G>A | XP_011524111.1:n.591+1G>A | |
| XM_006722388.3:c.1011+1G>A | XP_006722451.1:n.1011+1G>A | |
| XM_006722389.3:c.879+1G>A | XP_006722452.1:n.879+1G>A | |
| XM_006722390.3:c.879+1G>A | XP_006722453.1:n.879+1G>A | |
| XM_006722391.3:c.1011+1G>A | XP_006722454.1:n.1011+1G>A | |
| XM_011525804.2:c.2373+1G>A | XP_011524106.1:n.2373+1G>A | |
| XM_017025548.1:c.3594+1G>A | XP_016881037.1:n.3594+1G>A | |
| XM_024451084.1:c.2694+1G>A | XP_024306852.1:n.2694+1G>A | |
| XM_024451085.1:c.876+1G>A | XP_024306853.1:n.876+1G>A | |
| XM_024451086.1:c.591+1G>A | XP_024306854.1:n.591+1G>A | |
| XM_024451087.1:c.591+1G>A | XP_024306855.1:n.591+1G>A | |
| XM_024451088.1:c.591+1G>A | XP_024306856.1:n.591+1G>A | |
| NM_001145472.3:c.879+1G>A | NP_001138944.1:n.879+1G>A | |
| NM_001308013.2:c.591+1G>A | NP_001294942.1:n.591+1G>A | |
| NM_001384474.1:c.4212+1G>A MANE Select | NP_001371403.1:n.4212+1G>A | |
| NM_144612.7:c.4212+1G>A | NP_653213.6:n.4212+1G>A |