Linked Data
ClinVar Variation Id:
203783
ClinVar RCV Id:
RCV000672063
dbSNP Id:
rs367891946
ExAC:
15:40710326 C / G
gnomAD v2:
15-40710326-C-G
gnomAD v4:
15-40418127-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40418127C>G , CM000677.2:g.40418127C>G | GRCh38 |
| NC_000015.9:g.40710326C>G , CM000677.1:g.40710326C>G | GRCh37 |
| NC_000015.8:g.38497618C>G | NCBI36 |
| NG_011986.1:g.17641C>G | |
| NG_011986.2:g.17643C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000479013.7:c.1049-3C>G | ENSP00000417990.3:n.1049-3C>G | |
| ENST00000487418.8:c.1139-3C>G MANE Select | ENSP00000418397.3:n.1139-3C>G | |
| ENST00000650656.1:c.1058-3C>G | ENSP00000498731.1:n.1058-3C>G | |
| ENST00000651168.1:c.1148-3C>G | ENSP00000499074.1:n.1148-3C>G | |
| ENST00000466756.2:c.89+1765C>G | ||
| ENST00000473112.6:c.719+2645C>G | ||
| ENST00000479013.6:c.1058-3C>G | ENSP00000417990.2:n.1058-3C>G | |
| ENST00000481262.6:c.650+1765C>G | ||
| ENST00000487418.6:c.1148-3C>G | ENSP00000418397.2:n.1148-3C>G | |
| ENST00000491554.6:c.535+1765C>G | ENSP00000453146.1:n.535+1765C>G | |
| ENST00000497252.5:n.520-3C>G | ||
| ENST00000497816.1:n.516-3C>G | ||
| ENST00000559575.5:c.102-1053C>G | ||
| NM_001159508.1:c.1058-3C>G | NP_001152980.1:n.1058-3C>G | |
| NM_002225.3:c.1148-3C>G | NP_002216.2:n.1148-3C>G | |
| XM_005254350.2:c.1147+1765C>G | XP_005254407.1:n.1147+1765C>G | |
| XM_005254356.2:c.875+2645C>G | XP_005254413.1:n.875+2645C>G | |
| XM_006720491.2:c.1090+1765C>G | XP_006720554.1:n.1090+1765C>G | |
| XM_006720492.2:c.1147+1765C>G | XP_006720555.1:n.1147+1765C>G | |
| XM_006720493.2:c.1147+1765C>G | XP_006720556.1:n.1147+1765C>G | |
| XM_006720494.2:c.1148-1053C>G | XP_006720557.1:n.1148-1053C>G | |
| XM_006720495.2:c.969+2645C>G | XP_006720558.1:n.969+2645C>G | |
| XM_011521523.1:c.1147+1765C>G | XP_011519825.1:n.1147+1765C>G | |
| XR_243097.3:n.1054-3C>G | ||
| XR_243098.2:n.1053+1765C>G | ||
| XR_429453.2:n.1249-3C>G | ||
| NM_001159508.2:c.1049-3C>G | NP_001152980.2:n.1049-3C>G | |
| NM_001354597.2:c.1091-3C>G | NP_001341526.1:n.1091-3C>G | |
| NM_001354598.2:c.1138+1765C>G | NP_001341527.2:n.1138+1765C>G | |
| NM_001354599.2:c.1226-3C>G | NP_001341528.2:n.1226-3C>G | |
| NM_001354600.2:c.1225+1765C>G | NP_001341529.2:n.1225+1765C>G | |
| NM_001354601.2:c.1138+1765C>G | NP_001341530.2:n.1138+1765C>G | |
| NM_002225.4:c.1139-3C>G | NP_002216.3:n.1139-3C>G | |
| NR_148925.1:n.1548+1765C>G | ||
| XM_006720495.3:c.969+2645C>G | XP_006720558.1:n.969+2645C>G | |
| XM_017022149.1:c.1234+1765C>G | XP_016877638.1:n.1234+1765C>G | |
| XM_017022150.1:c.1234+1765C>G | XP_016877639.1:n.1234+1765C>G | |
| XM_017022153.1:c.1234+1765C>G | XP_016877642.1:n.1234+1765C>G | |
| XM_017022154.2:c.1178-3C>G | XP_016877643.1:n.1178-3C>G | |
| XM_017022155.2:c.1235-1053C>G | XP_016877644.1:n.1235-1053C>G | |
| XM_017022157.1:c.1056+2645C>G | XP_016877646.1:n.1056+2645C>G | |
| XR_001751263.1:n.1498-3C>G | ||
| NM_001159508.3:c.1049-3C>G | NP_001152980.2:n.1049-3C>G | |
| NM_001354597.3:c.1091-3C>G | NP_001341526.1:n.1091-3C>G | |
| NM_001354598.3:c.1138+1765C>G | NP_001341527.2:n.1138+1765C>G | |
| NM_001354599.3:c.1226-3C>G | NP_001341528.2:n.1226-3C>G | |
| NM_001354600.3:c.1225+1765C>G | NP_001341529.2:n.1225+1765C>G | |
| NM_001354601.3:c.1138+1765C>G | NP_001341530.2:n.1138+1765C>G | |
| NM_002225.5:c.1139-3C>G MANE Select | NP_002216.3:n.1139-3C>G | |
| NR_148925.2:n.1550+1765C>G |