Linked Data
gnomAD v4:
5-140333358-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333358A>G , CM000667.2:g.140333358A>G | GRCh38 |
| NC_000005.9:g.139712943A>G , CM000667.1:g.139712943A>G | GRCh37 |
| NC_000005.8:g.139693127A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*941T>C MANE Select | ENSP00000230990.6:n.*941T>C | |
| ENST00000230990.6:c.*941T>C | ENSP00000230990.6:n.*941T>C | |
| NM_001945.2:c.*941T>C | NP_001936.1:n.*941T>C | |
| NM_001945.3:c.*941T>C MANE Select | NP_001936.1:n.*941T>C |