Linked Data
dbSNP Id:
rs953741
gnomAD v2:
5-178329846-T-C
gnomAD v3:
5-178902845-T-C
gnomAD v4:
5-178902845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178902845T>C , CM000667.2:g.178902845T>C | GRCh38 |
| NC_000005.9:g.178329846T>C , CM000667.1:g.178329846T>C | GRCh37 |
| NC_000005.8:g.178262452T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361362.7:c.-450+6871T>C MANE Select | ENSP00000354453.2:n.-450+6871T>C | |
| ENST00000361362.6:c.-450+6871T>C | ENSP00000354453.2:n.-450+6871T>C | |
| ENST00000520660.5:c.-453+6871T>C | ENSP00000429095.1:n.-453+6871T>C | |
| ENST00000520805.5:c.-447+6871T>C | ENSP00000431074.1:n.-447+6871T>C | |
| NM_030613.2:c.-450+6871T>C | NP_085116.2:n.-450+6871T>C | |
| NM_030613.3:c.-450+6871T>C | NP_085116.2:n.-450+6871T>C | |
| NM_030613.4:c.-450+6871T>C MANE Select | NP_085116.2:n.-450+6871T>C |