Linked Data
ClinVar Variation Id:
391258
ClinVar RCV Id:
RCV000438901
dbSNP Id:
rs1057524018
gnomAD v4:
7-81984621-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81984621T>A , CM000669.2:g.81984621T>A | GRCh38 |
| NC_000007.13:g.81613937T>A , CM000669.1:g.81613937T>A | GRCh37 |
| NC_000007.12:g.81451873T>A | NCBI36 |
| NG_009358.2:g.464095A>T , LRG_437:g.464095A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443883.2:c.1930+14A>T | ENSP00000409374.2:n.1930+14A>T | |
| ENST00000705961.1:c.1640+14A>T | ||
| ENST00000705962.1:c.1774+14A>T | ENSP00000516190.1:n.1774+14A>T | |
| ENST00000356860.8:c.1873+14A>T MANE Select | ENSP00000349320.3:n.1873+14A>T | |
| ENST00000356253.9:c.1930+14A>T | ENSP00000348589.5:n.1930+14A>T | |
| ENST00000356860.7:c.1873+14A>T | ENSP00000349320.3:n.1873+14A>T | |
| ENST00000443883.1:c.426+14A>T | ||
| NM_000722.3:c.1873+14A>T | NP_000713.2:n.1873+14A>T | |
| XM_005250570.1:c.1930+14A>T | XP_005250627.1:n.1930+14A>T | |
| XM_005250572.1:c.1858+14A>T | XP_005250629.1:n.1858+14A>T | |
| XM_005250573.1:c.1873+14A>T | XP_005250630.1:n.1873+14A>T | |
| XM_005250574.1:c.1858+14A>T | XP_005250631.1:n.1858+14A>T | |
| XM_006716118.1:c.1930+14A>T | XP_006716181.1:n.1930+14A>T | |
| XM_006716119.2:c.1855+14A>T | XP_006716182.1:n.1855+14A>T | |
| XM_006716120.2:c.1813+14A>T | XP_006716183.1:n.1813+14A>T | |
| XM_006716121.2:c.340+14A>T | XP_006716184.1:n.340+14A>T | |
| XM_011516570.1:c.1930+14A>T | XP_011514872.1:n.1930+14A>T | |
| XM_011516571.1:c.1915+14A>T | XP_011514873.1:n.1915+14A>T | |
| XM_011516572.1:c.1915+14A>T | XP_011514874.1:n.1915+14A>T | |
| XM_011516573.1:c.1699+14A>T | XP_011514875.1:n.1699+14A>T | |
| NM_001366867.1:c.1930+14A>T | NP_001353796.1:n.1930+14A>T | |
| XM_005250572.3:c.1858+14A>T | XP_005250629.1:n.1858+14A>T | |
| XM_005250573.3:c.1873+14A>T | XP_005250630.1:n.1873+14A>T | |
| XM_005250574.3:c.1858+14A>T | XP_005250631.1:n.1858+14A>T | |
| XM_006716118.3:c.1930+14A>T | XP_006716181.1:n.1930+14A>T | |
| XM_006716119.3:c.1855+14A>T | XP_006716182.1:n.1855+14A>T | |
| XM_006716120.3:c.1813+14A>T | XP_006716183.1:n.1813+14A>T | |
| XM_006716121.3:c.340+14A>T | XP_006716184.1:n.340+14A>T | |
| XM_011516570.3:c.1930+14A>T | XP_011514872.1:n.1930+14A>T | |
| XM_011516571.3:c.1915+14A>T | XP_011514873.1:n.1915+14A>T | |
| XM_011516572.3:c.1915+14A>T | XP_011514874.1:n.1915+14A>T | |
| XM_017012588.1:c.1756+14A>T | XP_016868077.1:n.1756+14A>T | |
| XR_001744873.2:n.1950+14A>T | ||
| XR_001744874.2:n.1878+14A>T | ||
| NM_000722.4:c.1873+14A>T MANE Select | NP_000713.2:n.1873+14A>T |