Linked Data
dbSNP Id:
rs1030550707
gnomAD v2:
14-55603025-C-T
gnomAD v3:
14-55136307-C-T
gnomAD v4:
14-55136307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55136307C>T , CM000676.2:g.55136307C>T | GRCh38 |
| NC_000014.8:g.55603025C>T , CM000676.1:g.55603025C>T | GRCh37 |
| NC_000014.7:g.54672778C>T | NCBI36 |
| NG_017089.1:g.12091C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254301.14:c.-4-1063C>T MANE Select | ENSP00000254301.9:n.-4-1063C>T | |
| ENST00000254301.13:c.-4-1063C>T | ENSP00000254301.9:n.-4-1063C>T | |
| ENST00000553493.5:c.-4-1063C>T | ENSP00000451526.1:n.-4-1063C>T | |
| ENST00000553755.5:n.46-1738C>T | ||
| ENST00000554715.1:c.-4-1063C>T | ENSP00000451381.1:n.-4-1063C>T | |
| NM_001177388.1:c.-4-1063C>T | NP_001170859.1:n.-4-1063C>T | |
| NM_002306.3:c.-4-1063C>T | NP_002297.2:n.-4-1063C>T | |
| XM_011536759.1:c.-4-1063C>T | XP_011535061.1:n.-4-1063C>T | |
| NM_001357678.1:c.39-1063C>T | NP_001344607.1:n.39-1063C>T | |
| NM_002306.4:c.-4-1063C>T MANE Select | NP_002297.2:n.-4-1063C>T | |
| NM_001357678.2:c.39-1063C>T | NP_001344607.1:n.39-1063C>T |