Linked Data
ClinVar Variation Id:
1250002
ClinVar RCV Id:
RCV001650138
dbSNP Id:
rs2241685
gnomAD v2:
2-1925993-C-T
gnomAD v3:
2-1922221-C-T
gnomAD v4:
2-1922221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1922221C>T , CM000664.2:g.1922221C>T | GRCh38 |
| NC_000002.11:g.1925993C>T , CM000664.1:g.1925993C>T | GRCh37 |
| NC_000002.10:g.1905000C>T | NCBI36 |
| NG_051313.1:g.414168G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399161.8:c.1477+71G>A | ENSP00000382114.3:n.1477+71G>A | |
| ENST00000470954.3:c.972+71G>A | ||
| ENST00000602387.6:c.978+65G>A | ||
| ENST00000647687.2:c.972+71G>A | ||
| ENST00000648430.2:c.978+65G>A | ||
| ENST00000648665.2:c.1477+71G>A | ENSP00000497115.1:n.1477+71G>A | |
| ENST00000648753.2:c.978+65G>A | ||
| ENST00000648931.2:c.972+71G>A | ||
| ENST00000648943.2:c.972+71G>A | ||
| ENST00000649641.2:c.1483+65G>A | ENSP00000497373.2:n.1483+65G>A | |
| ENST00000649709.2:c.506-4882G>A | ENSP00000497604.2:n.506-4882G>A | |
| ENST00000650399.2:c.505+20761G>A | ENSP00000497900.2:n.505+20761G>A | |
| ENST00000650485.2:c.1477+71G>A | ENSP00000497068.1:n.1477+71G>A | |
| ENST00000399161.7:c.1477+71G>A | ENSP00000382114.3:n.1477+71G>A | |
| ENST00000428368.7:c.1483+65G>A | ENSP00000396103.3:n.1483+65G>A | |
| ENST00000470954.2:c.226+71G>A | ENSP00000497244.1:n.226+71G>A | |
| ENST00000644820.1:c.1483+65G>A | ENSP00000496210.1:n.1483+65G>A | |
| ENST00000647618.1:c.1420+65G>A | ENSP00000497024.1:n.1420+65G>A | |
| ENST00000647687.1:c.278+71G>A | ||
| ENST00000647694.1:c.1483+65G>A | ENSP00000497722.1:n.1483+65G>A | |
| ENST00000647738.2:c.1483+65G>A MANE Select | ENSP00000497479.2:n.1483+65G>A | |
| ENST00000647755.1:c.1477+71G>A | ENSP00000496922.1:n.1477+71G>A | |
| ENST00000648316.1:c.1477+71G>A | ENSP00000497870.1:n.1477+71G>A | |
| ENST00000648318.1:c.1477+71G>A | ENSP00000496831.1:n.1477+71G>A | |
| ENST00000648339.1:c.1483+65G>A | ENSP00000497493.1:n.1483+65G>A | |
| ENST00000648430.1:c.978+65G>A | ||
| ENST00000648627.1:c.506-4882G>A | ENSP00000497309.1:n.506-4882G>A | |
| ENST00000648665.1:c.1477+71G>A | ENSP00000497115.1:n.1477+71G>A | |
| ENST00000648753.1:c.698+65G>A | ||
| ENST00000648928.1:c.1477+71G>A | ENSP00000497017.1:n.1477+71G>A | |
| ENST00000648931.1:c.278+71G>A | ||
| ENST00000648933.1:c.506-4882G>A | ENSP00000497838.1:n.506-4882G>A | |
| ENST00000648943.1:c.677+71G>A | ||
| ENST00000649207.1:c.1477+71G>A | ENSP00000496986.1:n.1477+71G>A | |
| ENST00000649641.1:c.1483+65G>A | ENSP00000497373.1:n.1483+65G>A | |
| ENST00000649663.1:c.1483+65G>A | ENSP00000497273.1:n.1483+65G>A | |
| ENST00000649709.1:c.506-4882G>A | ENSP00000497604.1:n.506-4882G>A | |
| ENST00000649810.1:c.1477+71G>A | ENSP00000498096.1:n.1477+71G>A | |
| ENST00000650081.1:c.*920+65G>A | ENSP00000497922.1:n.*920+65G>A | |
| ENST00000650399.1:c.409+20761G>A | ENSP00000497900.1:n.409+20761G>A | |
| ENST00000650485.1:c.1477+71G>A | ENSP00000497068.1:n.1477+71G>A | |
| ENST00000650560.1:c.1480+65G>A | ENSP00000497816.1:n.1480+65G>A | |
| ENST00000399161.6:c.1483+65G>A | ENSP00000382114.2:n.1483+65G>A | |
| ENST00000428368.6:c.1477+71G>A | ENSP00000396103.2:n.1477+71G>A | |
| ENST00000602387.5:c.445+65G>A | ENSP00000473409.1:n.445+65G>A | |
| NM_001303052.1:c.1483+65G>A | NP_001289981.1:n.1483+65G>A | |
| NM_015025.3:c.1477+71G>A | NP_055840.2:n.1477+71G>A | |
| XM_011510318.1:c.1483+65G>A | XP_011508620.1:n.1483+65G>A | |
| XM_011510319.1:c.1483+65G>A | XP_011508621.1:n.1483+65G>A | |
| XM_011510320.1:c.1483+65G>A | XP_011508622.1:n.1483+65G>A | |
| XM_011510321.1:c.1483+65G>A | XP_011508623.1:n.1483+65G>A | |
| XM_011510322.1:c.1483+65G>A | XP_011508624.1:n.1483+65G>A | |
| XM_011510323.1:c.1483+65G>A | XP_011508625.1:n.1483+65G>A | |
| XM_011510324.1:c.1483+65G>A | XP_011508626.1:n.1483+65G>A | |
| XM_011510325.1:c.1477+71G>A | XP_011508627.1:n.1477+71G>A | |
| XM_011510326.1:c.1483+65G>A | XP_011508628.1:n.1483+65G>A | |
| XM_011510327.1:c.1483+65G>A | XP_011508629.1:n.1483+65G>A | |
| XM_011510328.1:c.1483+65G>A | XP_011508630.1:n.1483+65G>A | |
| XM_011510329.1:c.1189+65G>A | XP_011508631.1:n.1189+65G>A | |
| XM_011510330.1:c.1483+65G>A | XP_011508632.1:n.1483+65G>A | |
| XM_011510331.1:c.1483+65G>A | XP_011508633.1:n.1483+65G>A | |
| XM_011510332.1:c.1483+65G>A | XP_011508634.1:n.1483+65G>A | |
| NM_001329844.1:c.1483+65G>A | NP_001316773.1:n.1483+65G>A | |
| NM_001329845.1:c.1483+65G>A | NP_001316774.1:n.1483+65G>A | |
| NM_001329846.1:c.1477+71G>A | NP_001316775.1:n.1477+71G>A | |
| NM_001329847.1:c.1477+71G>A | NP_001316776.1:n.1477+71G>A | |
| NM_001329848.1:c.1477+71G>A | NP_001316777.1:n.1477+71G>A | |
| NM_001329849.1:c.1477+71G>A | NP_001316778.1:n.1477+71G>A | |
| NM_001329851.1:c.1483+65G>A | NP_001316780.1:n.1483+65G>A | |
| NM_001329852.1:c.1477+71G>A | NP_001316781.1:n.1477+71G>A | |
| XM_011510320.3:c.1483+65G>A | XP_011508622.1:n.1483+65G>A | |
| XM_011510321.2:c.1483+65G>A | XP_011508623.1:n.1483+65G>A | |
| XM_011510322.2:c.1483+65G>A | XP_011508624.1:n.1483+65G>A | |
| XM_011510324.2:c.1483+65G>A | XP_011508626.1:n.1483+65G>A | |
| XM_011510328.2:c.1483+65G>A | XP_011508630.1:n.1483+65G>A | |
| XM_011510331.2:c.1483+65G>A | XP_011508633.1:n.1483+65G>A | |
| XM_011510332.2:c.1483+65G>A | XP_011508634.1:n.1483+65G>A | |
| XM_017003604.1:c.1483+65G>A | XP_016859093.1:n.1483+65G>A | |
| XM_017003605.1:c.1483+65G>A | XP_016859094.1:n.1483+65G>A | |
| XM_017003606.1:c.1477+71G>A | XP_016859095.1:n.1477+71G>A | |
| XM_017003607.2:c.1477+71G>A | XP_016859096.1:n.1477+71G>A | |
| XM_017003608.1:c.1483+65G>A | XP_016859097.1:n.1483+65G>A | |
| XM_017003611.1:c.1477+71G>A | XP_016859100.1:n.1477+71G>A | |
| XM_017003612.1:c.1477+71G>A | XP_016859101.1:n.1477+71G>A | |
| XM_017003615.1:c.1483+65G>A | XP_016859104.1:n.1483+65G>A | |
| XM_017003616.1:c.1483+65G>A | XP_016859105.1:n.1483+65G>A | |
| XM_017003618.1:c.1477+71G>A | XP_016859107.1:n.1477+71G>A | |
| XM_017003620.1:c.1189+65G>A | XP_016859109.1:n.1189+65G>A | |
| XM_017003621.1:c.1483+65G>A | XP_016859110.1:n.1483+65G>A | |
| XM_017003622.1:c.1483+65G>A | XP_016859111.1:n.1483+65G>A | |
| NM_001303052.2:c.1483+65G>A MANE Select | NP_001289981.1:n.1483+65G>A | |
| NM_001329844.2:c.1483+65G>A | NP_001316773.1:n.1483+65G>A | |
| NM_001329846.2:c.1477+71G>A | NP_001316775.1:n.1477+71G>A | |
| NM_001329847.2:c.1477+71G>A | NP_001316776.1:n.1477+71G>A | |
| NM_001329849.2:c.1477+71G>A | NP_001316778.1:n.1477+71G>A | |
| NM_001329851.2:c.1483+65G>A | NP_001316780.1:n.1483+65G>A | |
| NM_001329852.2:c.1477+71G>A | NP_001316781.1:n.1477+71G>A | |
| NM_015025.4:c.1477+71G>A | NP_055840.2:n.1477+71G>A | |
| NM_001329846.3:c.1477+71G>A | NP_001316775.1:n.1477+71G>A | |
| NM_001329849.3:c.1477+71G>A | NP_001316778.1:n.1477+71G>A | |
| NM_001329851.3:c.1483+65G>A | NP_001316780.1:n.1483+65G>A | |
| NM_001329852.3:c.1477+71G>A | NP_001316781.1:n.1477+71G>A |