Linked Data
gnomAD v4:
7-148807311-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807311T>G , CM000669.2:g.148807311T>G | GRCh38 |
| NC_000007.13:g.148504403T>G , CM000669.1:g.148504403T>G | GRCh37 |
| NC_000007.12:g.148135336T>G | NCBI36 |
| NG_032043.1:g.82039A>C , LRG_531:g.82039A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1487A>C | ENSP00000507503.1:n.*1487A>C | |
| XR_928101.1:n.515+2226T>G | ||
| XR_928102.1:n.722+2226T>G |