Linked Data
gnomAD v4:
19-44905810-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44905810C>A , CM000681.2:g.44905810C>A | GRCh38 |
| NC_000019.9:g.45409067C>A , CM000681.1:g.45409067C>A | GRCh37 |
| NC_000019.8:g.50100907C>A | NCBI36 |
| NG_007084.2:g.5029C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.-55C>A MANE Select | ENSP00000252486.3:n.-55C>A | |
| ENST00000252486.8:c.-55C>A | ENSP00000252486.3:n.-55C>A | |
| ENST00000446996.5:c.-70C>A | ENSP00000413135.1:n.-70C>A | |
| ENST00000485628.2:n.15C>A | ||
| NM_000041.3:c.-55C>A | NP_000032.1:n.-55C>A | |
| NM_001302688.1:c.-59C>A | NP_001289617.1:n.-59C>A | |
| NM_001302691.1:c.-70C>A | NP_001289620.1:n.-70C>A | |
| NM_000041.4:c.-55C>A MANE Select | NP_000032.1:n.-55C>A | |
| NM_001302688.2:c.-59C>A | NP_001289617.1:n.-59C>A | |
| NM_001302691.2:c.-70C>A | NP_001289620.1:n.-70C>A |