Linked Data
dbSNP Id:
rs995486165
gnomAD v2:
17-80685563-C-T
gnomAD v3:
17-82727687-C-T
gnomAD v4:
17-82727687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727687C>T , CM000679.2:g.82727687C>T | GRCh38 |
| NC_000017.10:g.80685563C>T , CM000679.1:g.80685563C>T | GRCh37 |
| NC_000017.9:g.78278852C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*516C>T MANE Select | ENSP00000269373.6:n.*516C>T | |
| ENST00000269373.10:c.*516C>T | ENSP00000269373.6:n.*516C>T | |
| ENST00000571594.1:c.53+520C>T | ENSP00000459751.1:n.53+520C>T | |
| NM_024619.3:c.*516C>T | NP_078895.2:n.*516C>T | |
| NR_046408.1:n.1624C>T | ||
| XM_024450948.1:c.*516C>T | XP_024306716.1:n.*516C>T | |
| NM_024619.4:c.*516C>T MANE Select | NP_078895.2:n.*516C>T | |
| NR_046408.2:n.1624C>T |