Linked Data
gnomAD v4:
19-3595529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595529G>A , CM000681.2:g.3595529G>A | GRCh38 |
| NC_000019.9:g.3595527G>A , CM000681.1:g.3595527G>A | GRCh37 |
| NC_000019.8:g.3546527G>A | NCBI36 |
| NG_013363.1:g.16305C>T , LRG_578:g.16305C>T | |
| NG_031943.1:g.14959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*159C>T MANE Select | ENSP00000364336.4:n.*159C>T | |
| ENST00000375190.8:c.*159C>T | ENSP00000364336.3:n.*159C>T | |
| ENST00000411851.3:c.983+208C>T | ENSP00000393333.2:n.983+208C>T | |
| ENST00000589966.1:c.*22C>T | ENSP00000468145.1:n.*22C>T | |
| NM_001060.5:c.*159C>T , LRG_578t1:c.*159C>T | NP_001051.1:n.*159C>T | |
| NM_201636.2:c.983+208C>T | NP_963998.2:n.983+208C>T | |
| NM_001060.6:c.*159C>T MANE Select | NP_001051.1:n.*159C>T | |
| NM_201636.3:c.983+208C>T | NP_963998.2:n.983+208C>T |