Linked Data
gnomAD v4:
5-157109567-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109567A>C , CM000667.2:g.157109567A>C | GRCh38 |
| NC_000005.9:g.156536578A>C , CM000667.1:g.156536578A>C | GRCh37 |
| NC_000005.8:g.156469156A>C | NCBI36 |
| NG_030444.1:g.4671T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2605T>G | ENSP00000430328.2:n.-293-2605T>G | |
| ENST00000696899.1:c.-264-320T>G | ENSP00000512960.1:n.-264-320T>G | |
| ENST00000696901.1:c.-584T>G | ENSP00000512962.1:n.-584T>G | |
| ENST00000307851.8:c.-584T>G | ENSP00000312002.4:n.-584T>G | |
| ENST00000524219.1:c.-293-2605T>G | ENSP00000430328.1:n.-293-2605T>G |