Linked Data
dbSNP Id:
rs117026326
gnomAD v2:
7-74126034-C-T
gnomAD v3:
7-74711703-C-T
gnomAD v4:
7-74711703-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74711703C>T , CM000669.2:g.74711703C>T | GRCh38 |
| NC_000007.13:g.74126034C>T , CM000669.1:g.74126034C>T | GRCh37 |
| NC_000007.12:g.73763970C>T | NCBI36 |
| NG_008179.2:g.59014C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690345.1:c.1246+594C>T (GTF2I) | ENSP00000509776.1:n.1246+594C>T | |
| ENST00000573035.6:c.763+594C>T (GTF2I) MANE Select | ENSP00000460070.1:n.763+594C>T | |
| ENST00000650807.1:c.1246+594C>T (GTF2I) | ENSP00000499094.1:n.1246+594C>T | |
| ENST00000443166.5:c.763+594C>T (GTF2I) | ENSP00000404240.1:n.763+594C>T | |
| ENST00000490431.2:n.164+594C>T (GTF2I) | ||
| ENST00000573035.5:c.763+594C>T (GTF2I) | ENSP00000460070.1:n.763+594C>T | |
| ENST00000614986.4:c.763+594C>T (GTF2I) | ENSP00000484526.1:n.763+594C>T | |
| ENST00000620879.4:c.763+594C>T (GTF2I) | ENSP00000477837.1:n.763+594C>T | |
| ENST00000621734.4:c.763+594C>T (GTF2I) | ENSP00000482476.1:n.763+594C>T | |
| NM_001163636.2:c.763+594C>T (GTF2I) | NP_001157108.1:n.763+594C>T | |
| NM_001280800.1:c.763+594C>T (GTF2I) | NP_001267729.1:n.763+594C>T | |
| NM_001518.4:c.763+594C>T (GTF2I) | NP_001509.3:n.763+594C>T | |
| NM_032999.3:c.763+594C>T (GTF2I) | NP_127492.1:n.763+594C>T | |
| NM_033000.3:c.763+594C>T (GTF2I) | NP_127493.1:n.763+594C>T | |
| NM_033001.3:c.763+594C>T (GTF2I) | NP_127494.1:n.763+594C>T | |
| NR_110044.1:n.336-11323G>A (GTF2I-AS1) | ||
| XM_011516110.1:c.763+594C>T (GTF2I) | XP_011514412.1:n.763+594C>T | |
| XR_927460.1:n.768+594C>T (GTF2I) | ||
| NM_001163636.3:c.763+594C>T (GTF2I) | NP_001157108.1:n.763+594C>T | |
| NM_001518.5:c.763+594C>T (GTF2I) | NP_001509.3:n.763+594C>T | |
| NM_032999.4:c.763+594C>T (GTF2I) MANE Select | NP_127492.1:n.763+594C>T | |
| NM_033000.4:c.763+594C>T (GTF2I) | NP_127493.1:n.763+594C>T | |
| NM_033001.4:c.763+594C>T (GTF2I) | NP_127494.1:n.763+594C>T | |
| NM_001280800.2:c.763+594C>T (GTF2I) | NP_001267729.1:n.763+594C>T |