Linked Data
dbSNP Id:
rs16941667
gnomAD v2:
12-112244413-C-T
gnomAD v3:
12-111806609-C-T
gnomAD v4:
12-111806609-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111806609C>T , CM000674.2:g.111806609C>T | GRCh38 |
| NC_000012.11:g.112244413C>T , CM000674.1:g.112244413C>T | GRCh37 |
| NC_000012.10:g.110728796C>T | NCBI36 |
| NG_012250.1:g.45068C>T | |
| NG_012250.2:g.44723C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261733.7:c.1521+2636C>T MANE Select | ENSP00000261733.2:n.1521+2636C>T | |
| ENST00000261733.6:c.1521+2636C>T | ENSP00000261733.2:n.1521+2636C>T | |
| ENST00000416293.7:c.1380+2636C>T | ENSP00000403349.3:n.1380+2636C>T | |
| ENST00000548536.1:c.*1397+2636C>T | ENSP00000448179.1:n.*1397+2636C>T | |
| ENST00000549106.1:c.452+2636C>T | ||
| NM_000690.3:c.1521+2636C>T | NP_000681.2:n.1521+2636C>T | |
| NM_001204889.1:c.1380+2636C>T | NP_001191818.1:n.1380+2636C>T | |
| NM_000690.4:c.1521+2636C>T MANE Select | NP_000681.2:n.1521+2636C>T | |
| NM_001204889.2:c.1380+2636C>T | NP_001191818.1:n.1380+2636C>T |