Linked Data
ClinVar Variation Id:
1959675
ClinVar RCV Id:
RCV002710387
dbSNP Id:
rs770798940
ExAC:
9:133573019 C / T
gnomAD v2:
9-133573019-C-T
gnomAD v4:
9-130697632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130697632C>T , CM000671.2:g.130697632C>T | GRCh38 |
| NC_000009.11:g.133573019C>T , CM000671.1:g.133573019C>T | GRCh37 |
| NC_000009.10:g.132562840C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430138.7:n.24+5C>T | ||
| ENST00000491115.7:c.225-1697C>T | ENSP00000509903.1:n.225-1697C>T | |
| ENST00000495699.3:c.270+5C>T | ENSP00000418463.3:n.270+5C>T | |
| ENST00000546165.6:c.270+5C>T | ENSP00000444917.1:n.270+5C>T | |
| ENST00000685137.1:c.*55+5C>T | ENSP00000510555.1:n.*55+5C>T | |
| ENST00000685277.1:c.283+5C>T | ENSP00000508897.1:n.283+5C>T | |
| ENST00000686102.1:n.311C>T | ||
| ENST00000686106.1:n.281+5C>T | ||
| ENST00000687051.1:c.270+5C>T | ENSP00000509862.1:n.270+5C>T | |
| ENST00000687420.1:c.*55+5C>T | ENSP00000510661.1:n.*55+5C>T | |
| ENST00000688258.1:c.270+5C>T | ENSP00000509176.1:n.270+5C>T | |
| ENST00000688350.1:n.281+5C>T | ||
| ENST00000688364.1:n.149+5C>T | ||
| ENST00000688967.1:c.*60C>T | ENSP00000509217.1:n.*60C>T | |
| ENST00000689662.1:n.154C>T | ||
| ENST00000689890.1:c.270+5C>T | ENSP00000508702.1:n.270+5C>T | |
| ENST00000691104.1:n.291+5C>T | ||
| ENST00000691162.1:n.287C>T | ||
| ENST00000691284.1:c.270+5C>T | ENSP00000508620.1:n.270+5C>T | |
| ENST00000691425.1:n.287C>T | ||
| ENST00000691926.1:c.270+5C>T | ENSP00000510677.1:n.270+5C>T | |
| ENST00000692554.1:n.300C>T | ||
| ENST00000692794.1:c.*55+5C>T | ENSP00000510147.1:n.*55+5C>T | |
| ENST00000693011.1:c.*55+5C>T | ENSP00000508836.1:n.*55+5C>T | |
| ENST00000693435.1:c.*60C>T | ENSP00000509661.1:n.*60C>T | |
| ENST00000693610.1:c.*55+5C>T | ENSP00000509388.1:n.*55+5C>T | |
| ENST00000372358.10:c.270+5C>T MANE Select | ENSP00000361433.5:n.270+5C>T | |
| ENST00000372350.7:c.270+5C>T | ENSP00000361425.2:n.270+5C>T | |
| ENST00000372351.7:c.270+5C>T | ENSP00000361426.3:n.270+5C>T | |
| ENST00000372352.7:c.270+5C>T | ENSP00000361427.3:n.270+5C>T | |
| ENST00000372358.9:c.270+5C>T | ENSP00000361433.5:n.270+5C>T | |
| ENST00000430138.6:n.305C>T | ||
| ENST00000463488.1:n.256+5C>T | ||
| ENST00000490641.5:n.237-1697C>T | ||
| ENST00000491115.6:n.296-1697C>T | ||
| ENST00000495699.2:c.256+5C>T | ||
| ENST00000546165.5:c.270+5C>T | ENSP00000444917.1:n.270+5C>T | |
| NM_001282708.1:c.270+5C>T | NP_001269637.1:n.270+5C>T | |
| NM_001282709.1:c.270+5C>T | NP_001269638.1:n.270+5C>T | |
| NM_014285.6:c.270+5C>T | NP_055100.2:n.270+5C>T | |
| NR_104230.1:n.302+5C>T | ||
| XM_005272176.2:c.-67+5C>T | XP_005272233.1:n.-67+5C>T | |
| XM_006717022.1:c.270+5C>T | XP_006717085.1:n.270+5C>T | |
| XM_006717023.2:c.-31+5C>T | XP_006717086.1:n.-31+5C>T | |
| XM_006717024.2:c.270+5C>T | XP_006717087.1:n.270+5C>T | |
| XM_017014558.1:c.-596C>T | XP_016870047.1:n.-596C>T | |
| XR_001746262.1:n.282+5C>T | ||
| NM_014285.7:c.270+5C>T MANE Select | NP_055100.2:n.270+5C>T |