Linked Data
gnomAD v4:
19-7527615-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527615C>G , CM000681.2:g.7527615C>G | GRCh38 |
| NC_000019.9:g.7592501C>G , CM000681.1:g.7592501C>G | GRCh37 |
| NC_000019.8:g.7498501C>G | NCBI36 |
| NG_015806.1:g.10006C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.667C>G MANE Select | ENSP00000264079.5:p.Leu223Val | |
| ENST00000264079.10:c.667C>G | ENSP00000264079.5:p.Leu223Val | |
| ENST00000394321.9:n.747C>G | ||
| ENST00000598406.1:n.488C>G | ||
| ENST00000601003.1:c.572-249C>G | ENSP00000469074.1:n.572-249C>G | |
| NM_020533.2:c.667C>G | NP_065394.1:p.Leu223Val | |
| NM_020533.3:c.667C>G MANE Select | NP_065394.1:p.Leu223Val |