Linked Data
ClinVar Variation Id:
328641
ClinVar RCV Id:
RCV000351131
dbSNP Id:
rs201778172
ExAC:
19:19304955 C / T
gnomAD v2:
19-19304955-C-T
gnomAD v3:
19-19194146-C-T
gnomAD v4:
19-19194146-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19194146C>T , CM000681.2:g.19194146C>T | GRCh38 |
| NC_000019.9:g.19304955C>T , CM000681.1:g.19304955C>T | GRCh37 |
| NC_000019.8:g.19165955C>T | NCBI36 |
| NG_007432.1:g.6948C>T , LRG_102:g.6948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303088.9:c.187+13C>T MANE Select | ENSP00000305071.2:n.187+13C>T | |
| ENST00000303088.8:c.187+13C>T | ENSP00000305071.2:n.187+13C>T | |
| ENST00000392324.8:c.187+13C>T | ENSP00000376138.3:n.187+13C>T | |
| ENST00000407360.7:c.187+13C>T | ENSP00000384572.3:n.187+13C>T | |
| ENST00000421262.7:c.187+13C>T | ENSP00000393159.3:n.187+13C>T | |
| ENST00000456252.7:c.187+13C>T | ENSP00000409138.2:n.187+13C>T | |
| ENST00000535017.1:c.82+13C>T | ENSP00000444280.1:n.82+13C>T | |
| ENST00000540981.5:c.187+13C>T | ENSP00000440325.2:n.187+13C>T | |
| ENST00000541873.6:n.383+13C>T | ||
| ENST00000543157.7:n.450+13C>T | ||
| ENST00000545522.2:n.326+13C>T | ||
| ENST00000593273.5:c.187+13C>T | ENSP00000466913.1:n.187+13C>T | |
| NM_001278727.1:c.187+13C>T | NP_001265656.1:n.187+13C>T | |
| NM_001278728.1:c.187+13C>T | NP_001265657.1:n.187+13C>T | |
| NM_003721.3:c.187+13C>T | NP_003712.1:n.187+13C>T | |
| NM_134440.2:c.187+13C>T | NP_604389.1:n.187+13C>T | |
| XM_005260134.3:c.187+13C>T | XP_005260191.1:n.187+13C>T | |
| XM_005260135.2:c.187+13C>T | XP_005260192.1:n.187+13C>T | |
| XM_005260136.3:c.187+13C>T | XP_005260193.1:n.187+13C>T | |
| XM_005260137.3:c.187+13C>T | XP_005260194.1:n.187+13C>T | |
| XM_006722930.2:c.187+13C>T | XP_006722993.1:n.187+13C>T | |
| XM_005260134.5:c.187+13C>T | XP_005260191.1:n.187+13C>T | |
| XM_005260135.3:c.187+13C>T | XP_005260192.1:n.187+13C>T | |
| XM_005260136.5:c.187+13C>T | XP_005260193.1:n.187+13C>T | |
| XM_005260137.4:c.187+13C>T | XP_005260194.1:n.187+13C>T | |
| XM_006722930.4:c.187+13C>T | XP_006722993.1:n.187+13C>T | |
| XM_017027415.1:c.187+13C>T | XP_016882904.1:n.187+13C>T | |
| XM_017027416.1:c.187+13C>T | XP_016882905.1:n.187+13C>T | |
| NM_003721.4:c.187+13C>T MANE Select | NP_003712.1:n.187+13C>T | |
| NM_001370233.1:c.187+13C>T | NP_001357162.1:n.187+13C>T | |
| NM_001370234.1:c.187+13C>T | NP_001357163.1:n.187+13C>T | |
| NM_001370235.1:c.187+13C>T | NP_001357164.1:n.187+13C>T | |
| NM_001370236.1:c.187+13C>T | NP_001357165.1:n.187+13C>T | |
| NM_001370237.1:c.187+13C>T | NP_001357166.1:n.187+13C>T | |
| NM_001370238.1:c.187+13C>T | NP_001357167.1:n.187+13C>T | |
| NM_001278727.2:c.187+13C>T | NP_001265656.1:n.187+13C>T | |
| NM_001278728.2:c.187+13C>T | NP_001265657.1:n.187+13C>T | |
| NM_134440.3:c.187+13C>T | NP_604389.1:n.187+13C>T |