Linked Data
gnomAD v4:
11-2445009-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445009G>C , CM000673.2:g.2445009G>C | GRCh38 |
| NC_000011.9:g.2466239G>C , CM000673.1:g.2466239G>C | GRCh37 |
| NC_000011.8:g.2422815G>C | NCBI36 |
| NG_008935.1:g.5019G>C , LRG_287:g.5019G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.23+301G>C | ENSP00000434560.2:n.23+301G>C | |
| ENST00000646564.2:c.-90G>C | ENSP00000495806.2:n.-90G>C | |
| ENST00000155840.12:c.-90G>C MANE Select | ENSP00000155840.2:n.-90G>C | |
| ENST00000155840.9:c.-90G>C | ENSP00000155840.2:n.-90G>C | |
| ENST00000496887.6:c.23+301G>C | ENSP00000434560.1:n.23+301G>C | |
| NM_000218.2:c.-90G>C , LRG_287t1:c.-90G>C | NP_000209.2:n.-90G>C | |
| NM_000218.3:c.-90G>C MANE Select | NP_000209.2:n.-90G>C |