Linked Data
ClinVar Variation Id:
372551
dbSNP Id:
rs1057517849
gnomAD v3:
2-166039422-C-A
gnomAD v4:
2-166039422-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166039422C>A , CM000664.2:g.166039422C>A | GRCh38 |
| NC_000002.11:g.166895932C>A , CM000664.1:g.166895932C>A | GRCh37 |
| NC_000002.10:g.166604178C>A | NCBI36 |
| NG_011906.1:g.39218G>T , LRG_8:g.39218G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689288.1:c.*625+1G>T | ENSP00000509637.1:n.*625+1G>T | |
| ENST00000303395.9:c.2589+1G>T | ENSP00000303540.4:n.2589+1G>T | |
| ENST00000635750.1:c.2556+1G>T | ENSP00000490799.1:n.2556+1G>T | |
| ENST00000635776.1:c.2556+1G>T | ENSP00000490692.1:n.2556+1G>T | |
| ENST00000636194.1:c.*82+1G>T | ENSP00000490288.1:n.*82+1G>T | |
| ENST00000636759.1:c.*2379+1G>T | ENSP00000490895.1:n.*2379+1G>T | |
| ENST00000637968.1:n.2841+1G>T | ||
| ENST00000637988.1:c.2556+1G>T | ENSP00000490780.1:n.2556+1G>T | |
| ENST00000640036.1:c.2556+1G>T | ENSP00000491573.1:n.2556+1G>T | |
| ENST00000641575.1:c.2553+1G>T | ENSP00000492917.1:n.2553+1G>T | |
| ENST00000641603.1:c.2589+1G>T | ENSP00000492945.1:n.2589+1G>T | |
| ENST00000641996.1:c.*2143+1G>T | ENSP00000493054.1:n.*2143+1G>T | |
| ENST00000671940.1:c.*532+1G>T | ENSP00000500336.1:n.*532+1G>T | |
| ENST00000673490.1:n.5062+1G>T | ||
| ENST00000674923.1:c.2589+1G>T MANE Select | ENSP00000501589.1:n.2589+1G>T | |
| ENST00000303395.8:c.2589+1G>T | ENSP00000303540.4:n.2589+1G>T | |
| ENST00000375405.7:c.2556+1G>T | ENSP00000364554.3:n.2556+1G>T | |
| ENST00000409050.1:c.2505+1G>T | ENSP00000386312.1:n.2505+1G>T | |
| ENST00000423058.6:c.2589+1G>T | ENSP00000407030.2:n.2589+1G>T | |
| NM_001165963.1:c.2589+1G>T | NP_001159435.1:n.2589+1G>T | |
| NM_001165964.1:c.2505+1G>T | NP_001159436.1:n.2505+1G>T | |
| NM_001202435.1:c.2589+1G>T | NP_001189364.1:n.2589+1G>T | |
| NM_006920.4:c.2556+1G>T , LRG_8t1:c.2556+1G>T | NP_008851.3:n.2556+1G>T | |
| XM_011511598.1:c.2589+1G>T | XP_011509900.1:n.2589+1G>T | |
| XM_011511599.1:c.2589+1G>T | XP_011509901.1:n.2589+1G>T | |
| XM_011511600.1:c.2589+1G>T | XP_011509902.1:n.2589+1G>T | |
| XM_011511601.1:c.2589+1G>T | XP_011509903.1:n.2589+1G>T | |
| XM_011511602.1:c.2589+1G>T | XP_011509904.1:n.2589+1G>T | |
| XM_011511603.1:c.2586+1G>T | XP_011509905.1:n.2586+1G>T | |
| XM_011511604.1:c.2556+1G>T | XP_011509906.1:n.2556+1G>T | |
| XM_011511605.1:c.2553+1G>T | XP_011509907.1:n.2553+1G>T | |
| XM_011511606.1:c.2505+1G>T | XP_011509908.1:n.2505+1G>T | |
| XM_011511607.1:c.2589+1G>T | XP_011509909.1:n.2589+1G>T | |
| XR_922981.1:n.2773+1G>T | ||
| NM_001165963.2:c.2589+1G>T | NP_001159435.1:n.2589+1G>T | |
| NM_001165964.2:c.2505+1G>T | NP_001159436.1:n.2505+1G>T | |
| NM_001202435.2:c.2589+1G>T | NP_001189364.1:n.2589+1G>T | |
| NM_001353948.1:c.2589+1G>T | NP_001340877.1:n.2589+1G>T | |
| NM_001353949.1:c.2556+1G>T | NP_001340878.1:n.2556+1G>T | |
| NM_001353950.1:c.2556+1G>T | NP_001340879.1:n.2556+1G>T | |
| NM_001353951.1:c.2556+1G>T | NP_001340880.1:n.2556+1G>T | |
| NM_001353952.1:c.2556+1G>T | NP_001340881.1:n.2556+1G>T | |
| NM_001353954.1:c.2553+1G>T | NP_001340883.1:n.2553+1G>T | |
| NM_001353955.1:c.2553+1G>T | NP_001340884.1:n.2553+1G>T | |
| NM_001353957.1:c.2505+1G>T | NP_001340886.1:n.2505+1G>T | |
| NM_001353958.1:c.2505+1G>T | NP_001340887.1:n.2505+1G>T | |
| NM_001353960.1:c.2502+1G>T | NP_001340889.1:n.2502+1G>T | |
| NM_001353961.1:c.147+1G>T | NP_001340890.1:n.147+1G>T | |
| NM_006920.5:c.2556+1G>T | NP_008851.3:n.2556+1G>T | |
| NR_148667.1:n.2961+1G>T | ||
| XR_001738883.1:n.2975+1G>T | ||
| XR_001738884.1:n.2947+1G>T | ||
| NM_001165963.3:c.2589+1G>T | NP_001159435.1:n.2589+1G>T | |
| NM_001165964.3:c.2505+1G>T | NP_001159436.1:n.2505+1G>T | |
| NM_001202435.3:c.2589+1G>T | NP_001189364.1:n.2589+1G>T | |
| NM_001353948.2:c.2589+1G>T | NP_001340877.1:n.2589+1G>T | |
| NM_001353949.2:c.2556+1G>T | NP_001340878.1:n.2556+1G>T | |
| NM_001353950.2:c.2556+1G>T | NP_001340879.1:n.2556+1G>T | |
| NM_001353951.2:c.2556+1G>T | NP_001340880.1:n.2556+1G>T | |
| NM_001353952.2:c.2556+1G>T | NP_001340881.1:n.2556+1G>T | |
| NM_001353954.2:c.2553+1G>T | NP_001340883.1:n.2553+1G>T | |
| NM_001353955.2:c.2553+1G>T | NP_001340884.1:n.2553+1G>T | |
| NM_001353957.2:c.2505+1G>T | NP_001340886.1:n.2505+1G>T | |
| NM_001353958.2:c.2505+1G>T | NP_001340887.1:n.2505+1G>T | |
| NM_001353960.2:c.2502+1G>T | NP_001340889.1:n.2502+1G>T | |
| NM_001353961.2:c.147+1G>T | NP_001340890.1:n.147+1G>T | |
| NM_006920.6:c.2556+1G>T | NP_008851.3:n.2556+1G>T | |
| NR_148667.2:n.2942+1G>T | ||
| NM_001165963.4:c.2589+1G>T MANE Select | NP_001159435.1:n.2589+1G>T |