Linked Data
dbSNP Id:
rs954830518
gnomAD v2:
7-147601851-C-T
gnomAD v3:
7-147904759-C-T
gnomAD v4:
7-147904759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147904759C>T , CM000669.2:g.147904759C>T | GRCh38 |
| NC_000007.13:g.147601851C>T , CM000669.1:g.147601851C>T | GRCh37 |
| NC_000007.12:g.147232784C>T | NCBI36 |
| NG_007092.2:g.1793399C>T | |
| NG_007092.3:g.1793759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2255+1038C>T MANE Select | ENSP00000354778.3:n.2255+1038C>T | |
| ENST00000636870.1:n.2117+1038C>T | ||
| ENST00000637825.1:n.1738+1038C>T | ||
| ENST00000361727.7:c.2255+1038C>T | ENSP00000354778.3:n.2255+1038C>T | |
| ENST00000455301.2:n.190+1038C>T | ||
| ENST00000627772.2:n.428+1038C>T | ||
| NM_014141.5:c.2255+1038C>T | NP_054860.1:n.2255+1038C>T | |
| XM_006715919.1:c.743+1038C>T | XP_006715982.1:n.743+1038C>T | |
| NM_014141.6:c.2255+1038C>T MANE Select | NP_054860.1:n.2255+1038C>T |