Linked Data
gnomAD v4:
7-151187257-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151187257G>A , CM000669.2:g.151187257G>A | GRCh38 |
| NC_000007.13:g.150884344G>A , CM000669.1:g.150884344G>A | GRCh37 |
| NC_000007.12:g.150515277G>A | NCBI36 |
| NG_017016.1:g.5576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275838.5:c.-127C>T | ENSP00000275838.1:n.-127C>T | |
| ENST00000377867.7:c.271+195C>T | ENSP00000367098.3:n.271+195C>T | |
| ENST00000415615.1:c.*118C>T | ENSP00000410871.1:n.*118C>T | |
| NM_001142459.1:c.-127C>T | NP_001135931.2:n.-127C>T | |
| NM_001142460.1:c.-127C>T | NP_001135932.2:n.-127C>T | |
| NM_080871.3:c.271+195C>T | NP_543147.2:n.271+195C>T | |
| XM_005249949.3:c.9C>T | XP_005250006.1:p.Gly3= | |
| NM_080871.4:c.271+195C>T | NP_543147.2:n.271+195C>T |