Linked Data
gnomAD v4:
5-138946927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138946927T>C , CM000667.2:g.138946927T>C | GRCh38 |
| NC_000005.9:g.138282616T>C , CM000667.1:g.138282616T>C | GRCh37 |
| NC_000005.8:g.138310515T>C | NCBI36 |
| NG_008112.1:g.256450A>G | |
| NG_008112.2:g.256450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.*190A>G MANE Select | ENSP00000378294.2:n.*190A>G | |
| ENST00000265195.9:c.*190A>G | ENSP00000265195.5:n.*190A>G | |
| ENST00000394817.6:c.*190A>G | ENSP00000378294.2:n.*190A>G | |
| NM_001037633.1:c.*190A>G | NP_001032722.1:n.*190A>G | |
| NM_022464.4:c.*190A>G | NP_071909.1:n.*190A>G | |
| XM_011543570.2:c.*190A>G | XP_011541872.1:n.*190A>G | |
| XM_024446164.1:c.*190A>G | XP_024301932.1:n.*190A>G | |
| NM_022464.5:c.*190A>G MANE Select | NP_071909.1:n.*190A>G | |
| NM_001037633.2:c.*190A>G | NP_001032722.1:n.*190A>G |