Linked Data
gnomAD v4:
19-40843752-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843752T>G , CM000681.2:g.40843752T>G | GRCh38 |
| NC_000019.9:g.41349657T>G , CM000681.1:g.41349657T>G | GRCh37 |
| NC_000019.8:g.46041497T>G | NCBI36 |
| NG_008377.1:g.11696A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.*44A>C MANE Select | ENSP00000301141.4:n.*44A>C | |
| ENST00000301141.9:c.*44A>C | ENSP00000301141.4:n.*44A>C | |
| ENST00000599960.1:n.448A>C | ||
| ENST00000601627.1:c.119+42337T>G | ||
| NM_000762.5:c.*44A>C | NP_000753.3:n.*44A>C | |
| NM_000762.6:c.*44A>C MANE Select | NP_000753.3:n.*44A>C |