Linked Data
gnomAD v4:
10-119050552-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119050552C>G , CM000672.2:g.119050552C>G | GRCh38 |
| NC_000010.10:g.120810064C>G , CM000672.1:g.120810064C>G | GRCh37 |
| NC_000010.9:g.120800054C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369144.8:c.2442G>C MANE Select | ENSP00000358140.3:p.Glu814Asp | |
| ENST00000369144.7:c.2442G>C | ENSP00000358140.3:p.Glu814Asp | |
| ENST00000541549.2:c.2442G>C | ENSP00000438178.2:p.Glu814Asp | |
| NM_003750.2:c.2442G>C | NP_003741.1:p.Glu814Asp | |
| NM_003750.3:c.2442G>C | NP_003741.1:p.Glu814Asp | |
| NM_003750.4:c.2442G>C MANE Select | NP_003741.1:p.Glu814Asp |