Linked Data
dbSNP Id:
rs11677854
gnomAD v2:
2-48891287-C-T
gnomAD v3:
2-48664148-C-T
gnomAD v4:
2-48664148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48664148C>T , CM000664.2:g.48664148C>T | GRCh38 |
| NC_000002.11:g.48891287C>T , CM000664.1:g.48891287C>T | GRCh37 |
| NC_000002.10:g.48744791C>T | NCBI36 |
| NG_033050.1:g.139224C>T | |
| NG_033050.2:g.139224C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403751.8:c.979-5574C>T (GTF2A1L) MANE Select | ENSP00000384597.3:n.979-5574C>T | |
| ENST00000394751.5:c.2950-5574C>T (STON1-GTF2A1L) | ENSP00000378234.3:n.2950-5574C>T | |
| ENST00000394754.5:c.3091-5574C>T (STON1-GTF2A1L) | ENSP00000378236.1:n.3091-5574C>T | |
| ENST00000402114.6:c.3091-5574C>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3091-5574C>T | |
| ENST00000403751.7:c.979-5574C>T (GTF2A1L) | ENSP00000384597.3:n.979-5574C>T | |
| ENST00000405008.5:c.3091-5574C>T (STON1-GTF2A1L) | ENSP00000385499.1:n.3091-5574C>T | |
| ENST00000430487.6:c.877-5574C>T (GTF2A1L) | ENSP00000387896.2:n.877-5574C>T | |
| ENST00000602369.3:c.*316+4422G>A | ENSP00000473498.1:n.*316+4422G>A | |
| NM_001193487.2:c.877-5574C>T (GTF2A1L) | NP_001180416.1:n.877-5574C>T | |
| NM_001198593.1:c.3091-5574C>T (STON1-GTF2A1L) | NP_001185522.1:n.3091-5574C>T | |
| NM_001198594.1:c.2950-5574C>T (STON1-GTF2A1L) | NP_001185523.1:n.2950-5574C>T | |
| NM_006872.4:c.979-5574C>T (GTF2A1L) | NP_006863.2:n.979-5574C>T | |
| NM_172311.2:c.3091-5574C>T (STON1-GTF2A1L) | NP_758515.1:n.3091-5574C>T | |
| NM_006872.5:c.979-5574C>T (GTF2A1L) MANE Select | NP_006863.2:n.979-5574C>T | |
| NM_172311.3:c.3091-5574C>T (STON1-GTF2A1L) | NP_758515.1:n.3091-5574C>T | |
| NM_001193487.3:c.877-5574C>T (GTF2A1L) | NP_001180416.1:n.877-5574C>T | |
| NM_001198593.2:c.3091-5574C>T (STON1-GTF2A1L) | NP_001185522.1:n.3091-5574C>T |