Linked Data
dbSNP Id:
rs910416
gnomAD v2:
6-152432902-C-T
gnomAD v3:
6-152111767-C-T
gnomAD v4:
6-152111767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152111767C>T , CM000668.2:g.152111767C>T | GRCh38 |
| NC_000006.11:g.152432902C>T , CM000668.1:g.152432902C>T | GRCh37 |
| NC_000006.10:g.152474595C>T | NCBI36 |
| NG_008493.2:g.460077C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641399.1:n.1071-6496C>T | ||
| ENST00000427531.6:c.851-13499C>T | ENSP00000394721.2:n.851-13499C>T | |
| NM_001328100.1:c.851-13499C>T | NP_001315029.1:n.851-13499C>T | |
| NM_001328100.2:c.851-13499C>T | NP_001315029.1:n.851-13499C>T |