Linked Data
gnomAD v4:
19-7533801-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533801C>G , CM000681.2:g.7533801C>G | GRCh38 |
| NC_000019.9:g.7598687C>G , CM000681.1:g.7598687C>G | GRCh37 |
| NC_000019.8:g.7504687C>G | NCBI36 |
| NG_013374.1:g.4650C>G | |
| NG_015806.1:g.16192C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*6C>G MANE Select | ENSP00000264079.5:n.*6C>G | |
| ENST00000264079.10:c.*6C>G | ENSP00000264079.5:n.*6C>G | |
| ENST00000394321.9:n.2064C>G | ||
| ENST00000599334.1:c.477C>G | ||
| ENST00000601870.1:c.102C>G | ||
| ENST00000602227.1:n.303C>G | ||
| NM_020533.2:c.*6C>G | NP_065394.1:n.*6C>G | |
| NM_020533.3:c.*6C>G MANE Select | NP_065394.1:n.*6C>G |