Linked Data
gnomAD v4:
19-7530328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530328A>G , CM000681.2:g.7530328A>G | GRCh38 |
| NC_000019.9:g.7595214A>G , CM000681.1:g.7595214A>G | GRCh37 |
| NC_000019.8:g.7501214A>G | NCBI36 |
| NG_013374.1:g.1177A>G | |
| NG_015806.1:g.12719A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1402A>G MANE Select | ENSP00000264079.5:p.Ile468Val | |
| ENST00000264079.10:c.1402A>G | ENSP00000264079.5:p.Ile468Val | |
| ENST00000394321.9:n.1717A>G | ||
| ENST00000594692.1:n.398A>G | ||
| ENST00000595860.5:n.585A>G | ||
| ENST00000599334.1:c.237-107A>G | ||
| NM_020533.2:c.1402A>G | NP_065394.1:p.Ile468Val | |
| NM_020533.3:c.1402A>G MANE Select | NP_065394.1:p.Ile468Val |