Linked Data
ClinVar Variation Id:
371538
ClinVar RCV Id:
RCV000412040
dbSNP Id:
rs1057517350
gnomAD v4:
16-28482673-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482673C>T , CM000678.2:g.28482673C>T | GRCh38 |
| NC_000016.9:g.28493994C>T , CM000678.1:g.28493994C>T | GRCh37 |
| NC_000016.8:g.28401495C>T | NCBI36 |
| NG_008654.2:g.14630G>A , LRG_689:g.14630G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.719-1G>A | ENSP00000329171.9:n.719-1G>A | |
| ENST00000355477.10:c.647-1G>A | ENSP00000347660.7:n.647-1G>A | |
| ENST00000357857.14:c.629-1G>A | ENSP00000350523.9:n.629-1G>A | |
| ENST00000359984.12:c.791-1G>A | ENSP00000353073.9:n.791-1G>A | |
| ENST00000360019.8:c.719-1G>A | ENSP00000353116.3:n.719-1G>A | |
| ENST00000395653.9:c.332-1G>A | ENSP00000379014.5:n.332-1G>A | |
| ENST00000561689.6:n.1076-1G>A | ||
| ENST00000564091.6:c.131-1G>A | ENSP00000454466.2:n.131-1G>A | |
| ENST00000565316.6:c.791-1G>A | ENSP00000456117.1:n.791-1G>A | |
| ENST00000565778.6:c.422-1G>A | ENSP00000458015.1:n.422-1G>A | |
| ENST00000566083.6:n.1249-1G>A | ||
| ENST00000566824.6:n.771-1G>A | ||
| ENST00000567963.6:c.629-1G>A | ENSP00000455387.2:n.629-1G>A | |
| ENST00000568076.6:n.918-1G>A | ||
| ENST00000568422.6:c.*28-1G>A | ENSP00000455549.2:n.*28-1G>A | |
| ENST00000568452.6:n.894-1G>A | ||
| ENST00000568472.6:n.667-1G>A | ||
| ENST00000568497.6:c.-179-1G>A | ENSP00000456414.2:n.-179-1G>A | |
| ENST00000568558.6:c.494-1G>A | ENSP00000455603.2:n.494-1G>A | |
| ENST00000569430.7:c.791-1G>A | ENSP00000454229.1:n.791-1G>A | |
| ENST00000628023.3:c.*87-1G>A | ENSP00000486178.1:n.*87-1G>A | |
| ENST00000635861.1:c.*315-1G>A | ENSP00000490034.1:n.*315-1G>A | |
| ENST00000635887.1:c.791-1G>A | ENSP00000490709.1:n.791-1G>A | |
| ENST00000635958.1:n.902-1G>A | ||
| ENST00000635973.1:c.542-1G>A | ENSP00000490363.1:n.542-1G>A | |
| ENST00000636017.1:c.*315-1G>A | ENSP00000490538.1:n.*315-1G>A | |
| ENST00000636078.1:n.833-1G>A | ||
| ENST00000636147.2:c.791-1G>A MANE Select | ENSP00000490105.1:n.791-1G>A | |
| ENST00000636172.1:c.*315-1G>A | ENSP00000490505.1:n.*315-1G>A | |
| ENST00000636228.1:c.485-1G>A | ENSP00000489627.1:n.485-1G>A | |
| ENST00000636351.1:n.511-1G>A | ||
| ENST00000636503.1:c.791-1G>A | ENSP00000489824.1:n.791-1G>A | |
| ENST00000636685.1:n.298-1G>A | ||
| ENST00000636766.1:c.791-1G>A | ENSP00000489841.1:n.791-1G>A | |
| ENST00000636839.1:n.943-1G>A | ||
| ENST00000636853.1:n.1706-1G>A | ||
| ENST00000636866.1:c.791-1G>A | ENSP00000490880.1:n.791-1G>A | |
| ENST00000636907.1:n.942-1G>A | ||
| ENST00000636977.1:n.1859-1G>A | ||
| ENST00000637050.1:n.878-1G>A | ||
| ENST00000637100.1:c.791-1G>A | ENSP00000490394.1:n.791-1G>A | |
| ENST00000637107.1:c.*315-1G>A | ENSP00000490248.1:n.*315-1G>A | |
| ENST00000637184.1:c.791-1G>A | ENSP00000489952.1:n.791-1G>A | |
| ENST00000637299.1:c.*600-1G>A | ENSP00000489823.1:n.*600-1G>A | |
| ENST00000637376.1:c.791-1G>A | ENSP00000490758.1:n.791-1G>A | |
| ENST00000637578.1:c.*315-1G>A | ENSP00000490206.1:n.*315-1G>A | |
| ENST00000637699.1:c.574-1G>A | ENSP00000490049.1:n.574-1G>A | |
| ENST00000637745.1:c.130-1G>A | ||
| ENST00000637871.1:c.*315-1G>A | ENSP00000490670.1:n.*315-1G>A | |
| ENST00000333496.13:c.719-1G>A | ENSP00000329171.9:n.719-1G>A | |
| ENST00000355477.9:c.*28-1G>A | ENSP00000347660.6:n.*28-1G>A | |
| ENST00000357806.11:c.494-1G>A | ENSP00000350457.7:n.494-1G>A | |
| ENST00000357857.13:c.629-1G>A | ENSP00000350523.9:n.629-1G>A | |
| ENST00000359984.11:c.485-1G>A | ENSP00000353073.8:n.485-1G>A | |
| ENST00000360019.6:c.791-1G>A | ENSP00000353116.2:n.791-1G>A | |
| ENST00000395653.8:c.491-1G>A | ENSP00000379014.4:n.491-1G>A | |
| ENST00000561689.5:n.632-1G>A | ||
| ENST00000563874.5:n.2145-1G>A | ||
| ENST00000564574.5:n.839-1G>A | ||
| ENST00000565047.1:n.385-1G>A | ||
| ENST00000565140.5:c.574-1G>A | ENSP00000455342.1:n.574-1G>A | |
| ENST00000565316.5:c.791-1G>A | ENSP00000456117.1:n.791-1G>A | |
| ENST00000565354.5:n.10-1G>A | ||
| ENST00000565778.5:c.422-1G>A | ENSP00000458015.1:n.422-1G>A | |
| ENST00000566057.5:c.405-1G>A | ENSP00000456693.1:n.405-1G>A | |
| ENST00000566083.5:n.1022-1G>A | ||
| ENST00000566824.5:n.840-1G>A | ||
| ENST00000567495.5:c.*28-1G>A | ENSP00000456013.1:n.*28-1G>A | |
| ENST00000567963.5:c.791-1G>A | ENSP00000455387.1:n.791-1G>A | |
| ENST00000568076.5:n.574-1G>A | ||
| ENST00000568224.4:c.557-1G>A | ENSP00000454253.1:n.557-1G>A | |
| ENST00000568422.5:c.*28-1G>A | ENSP00000455549.1:n.*28-1G>A | |
| ENST00000568452.5:n.791-1G>A | ||
| ENST00000568472.5:n.271-1G>A | ||
| ENST00000568497.5:c.*87-1G>A | ENSP00000456414.1:n.*87-1G>A | |
| ENST00000568558.5:c.332-1G>A | ENSP00000455603.1:n.332-1G>A | |
| ENST00000569030.5:c.461-1G>A | ENSP00000454680.1:n.461-1G>A | |
| ENST00000569430.5:c.791-1G>A | ENSP00000454229.1:n.791-1G>A | |
| ENST00000628023.2:c.*87-1G>A | ENSP00000486178.1:n.*87-1G>A | |
| ENST00000631023.2:c.791-1G>A | ENSP00000486616.1:n.791-1G>A | |
| NM_000086.2:c.791-1G>A , LRG_689t1:c.791-1G>A | NP_000077.1:n.791-1G>A | |
| NM_001042432.1:c.791-1G>A , LRG_689t2:c.791-1G>A | NP_001035897.1:n.791-1G>A | |
| NM_001286104.1:c.719-1G>A | NP_001273033.1:n.719-1G>A | |
| NM_001286105.1:c.491-1G>A | NP_001273034.1:n.491-1G>A | |
| NM_001286109.1:c.557-1G>A | NP_001273038.1:n.557-1G>A | |
| NM_001286110.1:c.629-1G>A | NP_001273039.1:n.629-1G>A | |
| NM_001042432.2:c.791-1G>A MANE Select | NP_001035897.1:n.791-1G>A | |
| NM_001286104.2:c.719-1G>A | NP_001273033.1:n.719-1G>A | |
| NM_001286105.2:c.491-1G>A | NP_001273034.1:n.491-1G>A | |
| NM_001286109.2:c.557-1G>A | NP_001273038.1:n.557-1G>A | |
| NM_001286110.2:c.629-1G>A | NP_001273039.1:n.629-1G>A |