Linked Data
gnomAD v4:
1-31373130-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373130G>C , CM000663.2:g.31373130G>C | GRCh38 |
| NC_000001.10:g.31845977G>C , CM000663.1:g.31845977G>C | GRCh37 |
| NC_000001.9:g.31618564G>C | NCBI36 |
| NG_047049.1:g.5154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-89C>G | ENSP00000473982.1:n.-27-89C>G | |
| XM_011541007.1:c.-116C>G | XP_011539309.1:n.-116C>G | |
| NM_001320996.1:c.-116C>G | NP_001307925.1:n.-116C>G | |
| NM_004102.4:c.-116C>G | NP_004093.1:n.-116C>G | |
| XM_011541007.3:c.-116C>G | XP_011539309.1:n.-116C>G |