Linked Data
gnomAD v4:
1-40784065-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784065G>C , CM000663.2:g.40784065G>C | GRCh38 |
| NC_000001.10:g.41249737G>C , CM000663.1:g.41249737G>C | GRCh37 |
| NC_000001.9:g.41022324G>C | NCBI36 |
| NG_008139.1:g.5054G>C | |
| NG_008139.2:g.5054G>C | |
| NG_008139.3:g.5279G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-29G>C MANE Select | ENSP00000262916.6:n.-29G>C | |
| ENST00000347132.9:c.-29G>C | ENSP00000262916.6:n.-29G>C | |
| NM_004700.3:c.-29G>C | NP_004691.2:n.-29G>C | |
| NM_172163.2:c.-29G>C | NP_751895.1:n.-29G>C | |
| NM_004700.4:c.-29G>C MANE Select | NP_004691.2:n.-29G>C | |
| NM_172163.3:c.-29G>C | NP_751895.1:n.-29G>C |