Linked Data
gnomAD v4:
6-111222729-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222729A>T , CM000668.2:g.111222729A>T | GRCh38 |
| NC_000006.11:g.111543932A>T , CM000668.1:g.111543932A>T | GRCh37 |
| NC_000006.10:g.111650625A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*494A>T MANE Select | ENSP00000357844.4:n.*494A>T | |
| ENST00000368850.4:c.*494A>T | ENSP00000357843.1:n.*494A>T | |
| ENST00000368851.9:c.*494A>T | ENSP00000357844.4:n.*494A>T | |
| NM_018593.4:c.*494A>T | NP_061063.2:n.*494A>T | |
| XM_005266818.2:c.*448A>T | XP_005266875.1:n.*448A>T | |
| XM_017010237.1:c.*494A>T | XP_016865726.1:n.*494A>T | |
| XR_001743158.1:n.2324A>T | ||
| NM_018593.5:c.*494A>T MANE Select | NP_061063.2:n.*494A>T |