Linked Data
gnomAD v4:
8-19952013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19952013G>A , CM000670.2:g.19952013G>A | GRCh38 |
| NC_000008.10:g.19809524G>A , CM000670.1:g.19809524G>A | GRCh37 |
| NC_000008.9:g.19853804G>A | NCBI36 |
| NG_008855.1:g.17943G>A | |
| NG_008855.2:g.55297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+65G>A MANE Select | ENSP00000497642.1:n.429+65G>A | |
| ENST00000311322.8:c.429+65G>A | ENSP00000309757.6:n.429+65G>A | |
| ENST00000520959.5:c.201+65G>A | ENSP00000428496.1:n.201+65G>A | |
| NM_000237.2:c.429+65G>A | NP_000228.1:n.429+65G>A | |
| NM_000237.3:c.429+65G>A MANE Select | NP_000228.1:n.429+65G>A |