Linked Data
dbSNP Id:
rs924114189
gnomAD v2:
9-120480123-C-T
gnomAD v3:
9-117717845-C-T
gnomAD v4:
9-117717845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117717845C>T , CM000671.2:g.117717845C>T | GRCh38 |
| NC_000009.11:g.120480123C>T , CM000671.1:g.120480123C>T | GRCh37 |
| NC_000009.10:g.119519944C>T | NCBI36 |
| NG_011475.1:g.18664C>T | |
| NG_011475.2:g.18443C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646089.2:c.93+13280C>T | ENSP00000496197.1:n.93+13280C>T | |
| ENST00000697624.1:n.200+13280C>T | ||
| ENST00000697625.1:c.93+13280C>T | ENSP00000513362.1:n.93+13280C>T | |
| ENST00000697636.1:c.93+13280C>T | ENSP00000513366.1:n.93+13280C>T | |
| ENST00000697637.1:c.93+13280C>T | ENSP00000513367.1:n.93+13280C>T | |
| ENST00000697664.1:c.140+9116C>T | ENSP00000513389.1:n.140+9116C>T | |
| ENST00000697665.1:c.93+13280C>T | ENSP00000513390.1:n.93+13280C>T | |
| ENST00000697666.1:c.140+9116C>T | ENSP00000513391.1:n.140+9116C>T | |
| ENST00000355622.8:c.*3197C>T MANE Select | ENSP00000363089.5:n.*3197C>T | |
| ENST00000642985.1:c.260+9116C>T | ENSP00000493686.1:n.260+9116C>T | |
| ENST00000646089.1:c.93+13280C>T | ENSP00000496197.1:n.93+13280C>T | |
| ENST00000665764.1:c.93+13280C>T | ENSP00000499745.1:n.93+13280C>T | |
| NM_138554.5:c.*3197C>T MANE Select | NP_612564.1:n.*3197C>T | |
| NM_003266.4:c.*3197C>T | NP_003257.1:n.*3197C>T | |
| NM_138557.3:c.*3197C>T | NP_612567.1:n.*3197C>T |