Linked Data
gnomAD v4:
1-115700581-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115700581T>C , CM000663.2:g.115700581T>C | GRCh38 |
| NC_000001.10:g.116243202T>C , CM000663.1:g.116243202T>C | GRCh37 |
| NC_000001.9:g.116044725T>C | NCBI36 |
| NG_008802.1:g.73225A>G , LRG_404:g.73225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*1232A>G | ENSP00000518226.1:n.*1232A>G | |
| ENST00000261448.6:c.*660A>G MANE Select | ENSP00000261448.5:n.*660A>G | |
| ENST00000261448.5:c.*660A>G | ENSP00000261448.5:n.*660A>G | |
| NM_001232.3:c.*660A>G , LRG_404t1:c.*660A>G | NP_001223.2:n.*660A>G | |
| NM_001232.4:c.*660A>G MANE Select | NP_001223.2:n.*660A>G |