Linked Data
gnomAD v4:
19-3595442-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595442G>T , CM000681.2:g.3595442G>T | GRCh38 |
| NC_000019.9:g.3595440G>T , CM000681.1:g.3595440G>T | GRCh37 |
| NC_000019.8:g.3546440G>T | NCBI36 |
| NG_013363.1:g.16392C>A , LRG_578:g.16392C>A | |
| NG_031943.1:g.14872G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*246C>A MANE Select | ENSP00000364336.4:n.*246C>A | |
| ENST00000375190.8:c.*246C>A | ENSP00000364336.3:n.*246C>A | |
| ENST00000411851.3:c.983+295C>A | ENSP00000393333.2:n.983+295C>A | |
| ENST00000589966.1:c.*109C>A | ENSP00000468145.1:n.*109C>A | |
| NM_001060.5:c.*246C>A , LRG_578t1:c.*246C>A | NP_001051.1:n.*246C>A | |
| NM_201636.2:c.983+295C>A | NP_963998.2:n.983+295C>A | |
| NM_001060.6:c.*246C>A MANE Select | NP_001051.1:n.*246C>A | |
| NM_201636.3:c.983+295C>A | NP_963998.2:n.983+295C>A |