Linked Data
ClinVar Variation Id:
513673
ClinVar RCV Id:
RCV000604909
dbSNP Id:
rs1554966107
gnomAD v3:
11-31632410-G-T
gnomAD v4:
11-31632410-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31632410G>T , CM000673.2:g.31632410G>T | GRCh38 |
| NC_000011.9:g.31653957G>T , CM000673.1:g.31653957G>T | GRCh37 |
| NC_000011.8:g.31610533G>T | NCBI36 |
| NG_034086.1:g.127682G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350638.10:c.930+5G>T | ENSP00000298937.9:n.930+5G>T | |
| ENST00000379163.10:c.930+5G>T | ENSP00000368461.5:n.930+5G>T | |
| ENST00000638184.1:c.731+5G>T | ||
| ENST00000638347.1:c.927+5G>T | ENSP00000492567.1:n.927+5G>T | |
| ENST00000638376.1:c.939+5G>T | ||
| ENST00000638482.1:c.927+5G>T | ENSP00000491641.1:n.927+5G>T | |
| ENST00000638917.1:c.*310+5G>T | ENSP00000491989.1:n.*310+5G>T | |
| ENST00000638984.1:c.848+5G>T | ENSP00000492604.1:n.848+5G>T | |
| ENST00000639097.1:c.301+5G>T | ||
| ENST00000639570.1:c.927+5G>T | ENSP00000491971.1:n.927+5G>T | |
| ENST00000639878.1:c.927+5G>T | ENSP00000491157.1:n.927+5G>T | |
| ENST00000640081.1:c.*577+5G>T | ENSP00000491839.1:n.*577+5G>T | |
| ENST00000640231.1:c.927+5G>T | ENSP00000492475.1:n.927+5G>T | |
| ENST00000640342.1:c.930+5G>T | ENSP00000492628.1:n.930+5G>T | |
| ENST00000640533.1:c.930+5G>T | ENSP00000492770.1:n.930+5G>T | |
| ENST00000640790.1:c.943+5G>T | ||
| ENST00000640921.1:n.830G>T | ||
| ENST00000640954.1:c.927+5G>T | ENSP00000492376.1:n.927+5G>T | |
| ENST00000640961.2:c.927+5G>T MANE Select | ENSP00000492152.1:n.927+5G>T | |
| ENST00000350638.9:c.927+5G>T | ENSP00000298937.8:n.927+5G>T | |
| ENST00000379163.9:c.930+5G>T | ENSP00000368461.5:n.930+5G>T | |
| ENST00000395934.2:c.927+5G>T | ENSP00000379267.2:n.927+5G>T | |
| ENST00000474374.5:c.*373+5G>T | ENSP00000432642.1:n.*373+5G>T | |
| NM_001288725.1:c.930+5G>T | NP_001275654.1:n.930+5G>T | |
| NM_001288726.1:c.927+5G>T | NP_001275655.1:n.927+5G>T | |
| NM_019040.4:c.927+5G>T | NP_061913.3:n.927+5G>T | |
| XM_005252865.2:c.930+5G>T | XP_005252922.1:n.930+5G>T | |
| XM_011519986.1:c.930+5G>T | XP_011518288.1:n.930+5G>T | |
| XM_011519987.1:c.927+5G>T | XP_011518289.1:n.927+5G>T | |
| XM_011519988.1:c.930+5G>T | XP_011518290.1:n.930+5G>T | |
| XM_011519989.1:c.930+5G>T | XP_011518291.1:n.930+5G>T | |
| NM_019040.5:c.927+5G>T MANE Select | NP_061913.3:n.927+5G>T | |
| NM_001288725.2:c.930+5G>T | NP_001275654.1:n.930+5G>T | |
| NM_001288726.2:c.927+5G>T | NP_001275655.1:n.927+5G>T |