Linked Data
gnomAD v4:
7-95324513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324513C>T , CM000669.2:g.95324513C>T | GRCh38 |
| NC_000007.13:g.94953825C>T , CM000669.1:g.94953825C>T | GRCh37 |
| NC_000007.12:g.94791761C>T | NCBI36 |
| NG_008779.1:g.5060G>A | |
| NG_008779.2:g.5194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.-38G>A MANE Select | ENSP00000222381.3:n.-38G>A | |
| ENST00000222381.7:c.-38G>A | ENSP00000222381.3:n.-38G>A | |
| NM_000446.5:c.-38G>A | NP_000437.3:n.-38G>A | |
| NM_000446.6:c.-38G>A | NP_000437.3:n.-38G>A | |
| NM_000446.7:c.-38G>A MANE Select | NP_000437.3:n.-38G>A |