Linked Data
ClinVar Variation Id:
315118
dbSNP Id:
rs547495405
gnomAD v2:
14-95623685-G-A
gnomAD v3:
14-95157348-G-A
gnomAD v4:
14-95157348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95157348G>A , CM000676.2:g.95157348G>A | GRCh38 |
| NC_000014.8:g.95623685G>A , CM000676.1:g.95623685G>A | GRCh37 |
| NC_000014.7:g.94693438G>A | NCBI36 |
| NG_016311.1:g.5075C>T , LRG_492:g.5075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675540.2:c.-331C>T | ENSP00000501988.2:n.-331C>T | |
| ENST00000696733.1:c.-164C>T | ENSP00000512838.1:n.-164C>T | |
| ENST00000696734.1:c.-164C>T | ENSP00000512839.1:n.-164C>T | |
| ENST00000696736.1:c.-331C>T | ENSP00000512840.1:n.-331C>T | |
| ENST00000696737.1:c.-164C>T | ENSP00000512841.1:n.-164C>T | |
| ENST00000696739.1:n.123C>T | ||
| ENST00000696740.1:c.-331C>T | ENSP00000512843.1:n.-331C>T | |
| ENST00000696921.1:n.68C>T | ||
| ENST00000696922.1:n.79C>T | ||
| ENST00000696923.1:c.-331C>T | ENSP00000512976.1:n.-331C>T | |
| ENST00000696924.1:c.-331C>T | ENSP00000512977.1:n.-331C>T | |
| ENST00000696925.1:n.79C>T | ||
| ENST00000696928.1:n.34C>T | ||
| ENST00000343455.8:c.-164C>T MANE Select | ENSP00000343745.3:n.-164C>T | |
| ENST00000393063.6:c.-331C>T | ENSP00000376783.1:n.-331C>T | |
| ENST00000526495.6:c.-213+583C>T | ENSP00000437256.1:n.-213+583C>T | |
| ENST00000532939.3:c.-331C>T | ENSP00000452556.2:n.-331C>T | |
| ENST00000556045.6:c.-164C>T | ENSP00000451041.2:n.-164C>T | |
| ENST00000343455.7:c.-164C>T | ENSP00000343745.3:n.-164C>T | |
| ENST00000526495.5:c.-213+583C>T | ENSP00000437256.1:n.-213+583C>T | |
| ENST00000529206.1:n.96+43C>T | ||
| NM_001291628.1:c.-42+583C>T | NP_001278557.1:n.-42+583C>T | |
| NM_030621.4:c.-213+583C>T | NP_085124.2:n.-213+583C>T | |
| NM_177438.2:c.-164C>T , LRG_492t1:c.-164C>T | NP_803187.1:n.-164C>T | |
| XM_011536599.1:c.-331C>T | XP_011534901.1:n.-331C>T | |
| XM_011536600.1:c.-213+43C>T | XP_011534902.1:n.-213+43C>T | |
| XM_011536599.2:c.-331C>T | XP_011534901.1:n.-331C>T | |
| XM_011536600.3:c.-213+43C>T | XP_011534902.1:n.-213+43C>T | |
| XM_017021121.2:c.-46+43C>T | XP_016876610.1:n.-46+43C>T | |
| XM_017021122.2:c.-605C>T | XP_016876611.1:n.-605C>T | |
| NM_001291628.2:c.-42+583C>T | NP_001278557.1:n.-42+583C>T | |
| NM_177438.3:c.-164C>T MANE Select | NP_803187.1:n.-164C>T | |
| NM_001395677.1:c.-213+372C>T | NP_001382606.1:n.-213+372C>T | |
| NM_001395678.1:c.-46+43C>T | NP_001382607.1:n.-46+43C>T | |
| NM_001395679.1:c.-331C>T | NP_001382608.1:n.-331C>T | |
| NM_001395680.1:c.-213+43C>T | NP_001382609.1:n.-213+43C>T | |
| NM_001395682.1:c.-474C>T | NP_001382611.1:n.-474C>T | |
| NM_001395683.1:c.-265C>T | NP_001382612.1:n.-265C>T | |
| NM_001395684.1:c.-307C>T | NP_001382613.1:n.-307C>T | |
| NM_001395685.1:c.-164C>T | NP_001382614.1:n.-164C>T | |
| NM_001395686.1:c.-438C>T | NP_001382615.1:n.-438C>T | |
| NM_001395687.1:c.-249C>T | NP_001382616.1:n.-249C>T | |
| NM_001395688.1:c.-605C>T | NP_001382617.1:n.-605C>T | |
| NM_001395689.1:c.-438C>T | NP_001382618.1:n.-438C>T | |
| NM_001395690.1:c.-487+43C>T | NP_001382619.1:n.-487+43C>T | |
| NM_001395691.1:c.-622C>T | NP_001382620.1:n.-622C>T | |
| NM_001395692.1:c.-331C>T | NP_001382621.1:n.-331C>T | |
| NM_001395693.1:c.-164C>T | NP_001382622.1:n.-164C>T | |
| NM_001395694.1:c.-213+43C>T | NP_001382623.1:n.-213+43C>T | |
| NM_001395695.1:c.-265C>T | NP_001382624.1:n.-265C>T | |
| NM_001395696.1:c.-438C>T | NP_001382625.1:n.-438C>T | |
| NM_001395697.1:c.-1899C>T | NP_001382626.1:n.-1899C>T | |
| NM_001395698.1:c.-438C>T | NP_001382627.1:n.-438C>T | |
| NM_001395699.1:c.-331C>T | NP_001382628.1:n.-331C>T | |
| NM_001395700.1:c.-164C>T | NP_001382629.1:n.-164C>T | |
| NR_172715.1:n.182C>T | ||
| NR_172716.1:n.182C>T | ||
| NR_172717.1:n.182C>T | ||
| NR_172718.1:n.182C>T | ||
| NR_172719.1:n.182C>T | ||
| NR_172720.1:n.182C>T |