Linked Data
dbSNP Id:
rs1793004
gnomAD v2:
11-20698929-C-T
gnomAD v3:
11-20677383-C-T
gnomAD v4:
11-20677383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20677383C>T , CM000673.2:g.20677383C>T | GRCh38 |
| NC_000011.9:g.20698929C>T , CM000673.1:g.20698929C>T | GRCh37 |
| NC_000011.8:g.20655505C>T | NCBI36 |
| NG_047064.1:g.12833C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357134.10:c.56-549C>T MANE Select | ENSP00000349654.5:n.56-549C>T | |
| ENST00000298925.9:c.140-549C>T | ENSP00000298925.5:n.140-549C>T | |
| ENST00000325319.9:c.56-549C>T | ENSP00000317837.5:n.56-549C>T | |
| ENST00000357134.9:c.56-549C>T | ENSP00000349654.5:n.56-549C>T | |
| ENST00000532434.5:c.56-549C>T | ENSP00000437170.1:n.56-549C>T | |
| NM_001288713.1:c.140-549C>T | NP_001275642.1:n.140-549C>T | |
| NM_001288714.1:c.56-549C>T | NP_001275643.1:n.56-549C>T | |
| NM_006157.4:c.56-549C>T | NP_006148.2:n.56-549C>T | |
| NM_201551.2:c.56-549C>T | NP_963845.1:n.56-549C>T | |
| NM_006157.5:c.56-549C>T MANE Select | NP_006148.2:n.56-549C>T |