Linked Data
gnomAD v4:
19-19266513-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19266513C>G , CM000681.2:g.19266513C>G | GRCh38 |
| NC_000019.9:g.19377322C>G , CM000681.1:g.19377322C>G | GRCh37 |
| NC_000019.8:g.19238322C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389363.5:c.901G>C MANE Select | ENSP00000374014.2:p.Val301Leu | |
| ENST00000389363.4:c.901G>C | ENSP00000374014.2:p.Val301Leu | |
| ENST00000431465.2:n.1297G>C | ||
| ENST00000590431.6:n.204G>C | ||
| ENST00000591001.5:n.1235G>C | ||
| NM_001001524.2:c.901G>C | NP_001001524.2:p.Val301Leu | |
| NM_001001524.3:c.901G>C MANE Select | NP_001001524.2:p.Val301Leu |