Linked Data
dbSNP Id:
rs1204170791
gnomAD v2:
6-10897414-C-T
gnomAD v3:
6-10897181-C-T
gnomAD v4:
6-10897181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10897181C>T , CM000668.2:g.10897181C>T | GRCh38 |
| NC_000006.11:g.10897414C>T , CM000668.1:g.10897414C>T | GRCh37 |
| NC_000006.10:g.11005400C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283141.11:c.337-830C>T MANE Select | ENSP00000283141.6:n.337-830C>T | |
| ENST00000283141.10:c.337-830C>T | ENSP00000283141.6:n.337-830C>T | |
| ENST00000341041.8:c.337-830C>T | ENSP00000340320.4:n.337-830C>T | |
| ENST00000480294.1:c.*299-830C>T | ENSP00000417929.1:n.*299-830C>T | |
| ENST00000543878.5:c.334-830C>T | ENSP00000440676.2:n.334-830C>T | |
| NM_001040274.2:c.337-830C>T | NP_001035364.2:n.337-830C>T | |
| NM_001040274.3:c.337-830C>T MANE Select | NP_001035364.2:n.337-830C>T |