Linked Data
gnomAD v4:
5-93585497-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93585497C>A , CM000667.2:g.93585497C>A | GRCh38 |
| NC_000005.9:g.92921203C>A , CM000667.1:g.92921203C>A | GRCh37 |
| NC_000005.8:g.92946959C>A | NCBI36 |
| NG_034119.1:g.7161C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615873.2:c.388+11C>A | ENSP00000481517.1:n.388+11C>A | |
| ENST00000327111.8:c.463+11C>A MANE Select | ENSP00000325819.3:n.463+11C>A | |
| ENST00000647447.1:c.310+11C>A | ENSP00000495740.1:n.310+11C>A | |
| ENST00000327111.7:c.463+11C>A | ENSP00000325819.3:n.463+11C>A | |
| ENST00000615873.1:c.388+11C>A | ENSP00000481517.1:n.388+11C>A | |
| NM_005654.5:c.463+11C>A | NP_005645.1:n.463+11C>A | |
| NM_005654.6:c.463+11C>A MANE Select | NP_005645.1:n.463+11C>A |