Linked Data
gnomAD v4:
1-149884685-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149884685G>T , CM000663.2:g.149884685G>T | GRCh38 |
| NC_000001.10:g.149856235G>T , CM000663.1:g.149856235G>T | GRCh37 |
| NC_000001.9:g.148122859G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369155.4:c.*1575C>A MANE Select | ENSP00000358151.2:n.*1575C>A | |
| ENST00000369155.3:c.*1575C>A | ENSP00000358151.2:n.*1575C>A | |
| ENST00000369160.3:c.377+1579C>A | ENSP00000375736.2:n.377+1579C>A | |
| NM_003528.2:c.*1575C>A | NP_003519.1:n.*1575C>A | |
| NM_003528.3:c.*1575C>A MANE Select | NP_003519.1:n.*1575C>A |