Linked Data
dbSNP Id:
rs14399
gnomAD v2:
6-111543944-C-A
gnomAD v3:
6-111222741-C-A
gnomAD v4:
6-111222741-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222741C>A , CM000668.2:g.111222741C>A | GRCh38 |
| NC_000006.11:g.111543944C>A , CM000668.1:g.111543944C>A | GRCh37 |
| NC_000006.10:g.111650637C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368851.10:c.*506C>A MANE Select | ENSP00000357844.4:n.*506C>A | |
| ENST00000368850.4:c.*506C>A | ENSP00000357843.1:n.*506C>A | |
| ENST00000368851.9:c.*506C>A | ENSP00000357844.4:n.*506C>A | |
| NM_018593.4:c.*506C>A | NP_061063.2:n.*506C>A | |
| XM_005266818.2:c.*460C>A | XP_005266875.1:n.*460C>A | |
| XM_017010237.1:c.*506C>A | XP_016865726.1:n.*506C>A | |
| XR_001743158.1:n.2336C>A | ||
| NM_018593.5:c.*506C>A MANE Select | NP_061063.2:n.*506C>A |