Linked Data
gnomAD v4:
8-19939459-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939459C>A , CM000670.2:g.19939459C>A | GRCh38 |
| NC_000008.10:g.19796970C>A , CM000670.1:g.19796970C>A | GRCh37 |
| NC_000008.9:g.19841250C>A | NCBI36 |
| NG_008855.1:g.5389C>A | |
| NG_008855.2:g.42743C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.19C>A MANE Select | ENSP00000497642.1:p.Leu7Ile | |
| ENST00000311322.8:c.19C>A | ENSP00000309757.6:p.Leu7Ile | |
| ENST00000519773.1:c.19C>A | ENSP00000431028.1:p.Leu7Ile | |
| ENST00000520959.5:c.-140-8721C>A | ENSP00000428496.1:n.-140-8721C>A | |
| ENST00000521994.1:n.204C>A | ||
| ENST00000522701.5:c.19C>A | ENSP00000428557.1:p.Leu7Ile | |
| ENST00000523696.1:n.88C>A | ||
| ENST00000524029.5:c.19C>A | ENSP00000428237.1:p.Leu7Ile | |
| NM_000237.2:c.19C>A | NP_000228.1:p.Leu7Ile | |
| NM_000237.3:c.19C>A MANE Select | NP_000228.1:p.Leu7Ile |