Linked Data
gnomAD v4:
5-157109540-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109540T>A , CM000667.2:g.157109540T>A | GRCh38 |
| NC_000005.9:g.156536551T>A , CM000667.1:g.156536551T>A | GRCh37 |
| NC_000005.8:g.156469129T>A | NCBI36 |
| NG_030444.1:g.4698A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2578A>T | ENSP00000430328.2:n.-293-2578A>T | |
| ENST00000696899.1:c.-264-293A>T | ENSP00000512960.1:n.-264-293A>T | |
| ENST00000696901.1:c.-557A>T | ENSP00000512962.1:n.-557A>T | |
| ENST00000307851.8:c.-557A>T | ENSP00000312002.4:n.-557A>T | |
| ENST00000524219.1:c.-293-2578A>T | ENSP00000430328.1:n.-293-2578A>T |