Linked Data
dbSNP Id:
rs1403426866
gnomAD v2:
4-56212502-C-T
gnomAD v3:
4-55346335-C-T
gnomAD v4:
4-55346335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346335C>T , CM000666.2:g.55346335C>T | GRCh38 |
| NC_000004.11:g.56212502C>T , CM000666.1:g.56212502C>T | GRCh37 |
| NC_000004.10:g.55907259C>T | NCBI36 |
| NG_028230.1:g.5115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.-2C>T MANE Select | ENSP00000264228.4:n.-2C>T | |
| ENST00000679351.1:c.-2C>T | ENSP00000505676.1:n.-2C>T | |
| ENST00000679707.1:c.-2C>T | ENSP00000505713.1:n.-2C>T | |
| ENST00000679836.1:c.-2C>T | ENSP00000506601.1:n.-2C>T | |
| ENST00000680700.1:c.-2C>T | ENSP00000504926.1:n.-2C>T | |
| ENST00000264228.8:c.-2C>T | ENSP00000264228.4:n.-2C>T | |
| NM_024592.4:c.-2C>T | NP_078868.1:n.-2C>T | |
| XM_005265766.2:c.-2C>T | XP_005265823.1:n.-2C>T | |
| XM_005265767.2:c.-2C>T | XP_005265824.1:n.-2C>T | |
| XM_005265766.4:c.-2C>T | XP_005265823.1:n.-2C>T | |
| XM_005265767.3:c.-2C>T | XP_005265824.1:n.-2C>T | |
| NM_024592.5:c.-2C>T MANE Select | NP_078868.1:n.-2C>T |