Linked Data
ClinVar Variation Id:
392014
dbSNP Id:
rs369334561
ExAC:
9:138662128 C / G
gnomAD v2:
9-138662128-C-G
gnomAD v3:
9-135770282-C-G
gnomAD v4:
9-135770282-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770282C>G , CM000671.2:g.135770282C>G | GRCh38 |
| NC_000009.11:g.138662128C>G , CM000671.1:g.138662128C>G | GRCh37 |
| NC_000009.10:g.137801949C>G | NCBI36 |
| NG_033070.1:g.73098C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.1620-16C>G MANE Select | ENSP00000360822.2:n.1620-16C>G | |
| ENST00000674572.1:c.1461-16C>G | ENSP00000501742.1:n.1461-16C>G | |
| ENST00000675090.1:c.1368-16C>G | ENSP00000501833.1:n.1368-16C>G | |
| ENST00000675399.1:c.1368-16C>G | ENSP00000501932.1:n.1368-16C>G | |
| ENST00000676421.1:c.1377-16C>G | ENSP00000502322.1:n.1377-16C>G | |
| ENST00000263604.5:c.1521-16C>G | ENSP00000263604.4:n.1521-16C>G | |
| ENST00000371757.6:c.1620-16C>G | ENSP00000360822.2:n.1620-16C>G | |
| ENST00000460750.5:c.*1230-16C>G | ENSP00000418777.1:n.*1230-16C>G | |
| ENST00000486577.6:c.1503-16C>G | ENSP00000417578.3:n.1503-16C>G | |
| ENST00000487664.5:c.1620-16C>G | ENSP00000417851.2:n.1620-16C>G | |
| ENST00000488444.6:c.1563-16C>G | ENSP00000419007.3:n.1563-16C>G | |
| ENST00000490355.6:c.1563-16C>G | ENSP00000418003.3:n.1563-16C>G | |
| ENST00000490363.3:n.1439-16C>G | ||
| ENST00000491806.6:c.1563-16C>G | ENSP00000419086.3:n.1563-16C>G | |
| ENST00000628528.2:c.1485-16C>G | ENSP00000486374.1:n.1485-16C>G | |
| ENST00000630792.2:c.1461-16C>G | ENSP00000486486.1:n.1461-16C>G | |
| ENST00000631073.2:c.1563-16C>G | ENSP00000486130.1:n.1563-16C>G | |
| NM_001272003.1:c.1485-16C>G | NP_001258932.1:n.1485-16C>G | |
| NM_020822.2:c.1620-16C>G | NP_065873.2:n.1620-16C>G | |
| XM_011518877.1:c.1755-16C>G | XP_011517179.1:n.1755-16C>G | |
| XM_011518878.1:c.1764-16C>G | XP_011517180.1:n.1764-16C>G | |
| XM_011518879.1:c.1755-16C>G | XP_011517181.1:n.1755-16C>G | |
| XM_011518880.1:c.1521-16C>G | XP_011517182.1:n.1521-16C>G | |
| XM_011518881.1:c.1110-16C>G | XP_011517183.1:n.1110-16C>G | |
| XM_011518877.3:c.1755-16C>G | XP_011517179.1:n.1755-16C>G | |
| XM_011518878.3:c.1764-16C>G | XP_011517180.1:n.1764-16C>G | |
| XM_011518879.3:c.1755-16C>G | XP_011517181.1:n.1755-16C>G | |
| XM_011518881.3:c.1110-16C>G | XP_011517183.1:n.1110-16C>G | |
| XM_017014931.1:c.1554-16C>G | XP_016870420.1:n.1554-16C>G | |
| XM_017014932.1:c.1377-16C>G | XP_016870421.1:n.1377-16C>G | |
| XM_017014933.1:c.1110-16C>G | XP_016870422.1:n.1110-16C>G | |
| XM_024447617.1:c.1110-16C>G | XP_024303385.1:n.1110-16C>G | |
| XM_024447618.1:c.1110-16C>G | XP_024303386.1:n.1110-16C>G | |
| NM_020822.3:c.1620-16C>G MANE Select | NP_065873.2:n.1620-16C>G | |
| NM_001272003.2:c.1485-16C>G | NP_001258932.1:n.1485-16C>G |