Linked Data
dbSNP Id:
rs997509
gnomAD v2:
6-132167977-C-T
gnomAD v3:
6-131846837-C-T
gnomAD v4:
6-131846837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131846837C>T , CM000668.2:g.131846837C>T | GRCh38 |
| NC_000006.11:g.132167977C>T , CM000668.1:g.132167977C>T | GRCh37 |
| NC_000006.10:g.132209670C>T | NCBI36 |
| NG_008206.1:g.43822C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684147.1:n.519-939C>T | ||
| ENST00000647893.1:c.241-939C>T MANE Select | ENSP00000498074.1:n.241-939C>T | |
| ENST00000650507.1:c.248-939C>T | ENSP00000497375.1:n.248-939C>T | |
| ENST00000360971.6:c.241-939C>T | ENSP00000354238.2:n.241-939C>T | |
| ENST00000486853.1:n.261-939C>T | ||
| ENST00000513998.5:c.241-939C>T | ENSP00000422424.1:n.241-939C>T | |
| NM_006208.2:c.241-939C>T | NP_006199.2:n.241-939C>T | |
| NM_006208.3:c.241-939C>T MANE Select | NP_006199.2:n.241-939C>T |