Linked Data
gnomAD v4:
19-3595475-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595475A>G , CM000681.2:g.3595475A>G | GRCh38 |
| NC_000019.9:g.3595473A>G , CM000681.1:g.3595473A>G | GRCh37 |
| NC_000019.8:g.3546473A>G | NCBI36 |
| NG_013363.1:g.16359T>C , LRG_578:g.16359T>C | |
| NG_031943.1:g.14905A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*213T>C MANE Select | ENSP00000364336.4:n.*213T>C | |
| ENST00000375190.8:c.*213T>C | ENSP00000364336.3:n.*213T>C | |
| ENST00000411851.3:c.983+262T>C | ENSP00000393333.2:n.983+262T>C | |
| ENST00000589966.1:c.*76T>C | ENSP00000468145.1:n.*76T>C | |
| NM_001060.5:c.*213T>C , LRG_578t1:c.*213T>C | NP_001051.1:n.*213T>C | |
| NM_201636.2:c.983+262T>C | NP_963998.2:n.983+262T>C | |
| NM_001060.6:c.*213T>C MANE Select | NP_001051.1:n.*213T>C | |
| NM_201636.3:c.983+262T>C | NP_963998.2:n.983+262T>C |