Linked Data
gnomAD v4:
19-3595526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595526T>C , CM000681.2:g.3595526T>C | GRCh38 |
| NC_000019.9:g.3595524T>C , CM000681.1:g.3595524T>C | GRCh37 |
| NC_000019.8:g.3546524T>C | NCBI36 |
| NG_013363.1:g.16308A>G , LRG_578:g.16308A>G | |
| NG_031943.1:g.14956T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*162A>G MANE Select | ENSP00000364336.4:n.*162A>G | |
| ENST00000375190.8:c.*162A>G | ENSP00000364336.3:n.*162A>G | |
| ENST00000411851.3:c.983+211A>G | ENSP00000393333.2:n.983+211A>G | |
| ENST00000589966.1:c.*25A>G | ENSP00000468145.1:n.*25A>G | |
| NM_001060.5:c.*162A>G , LRG_578t1:c.*162A>G | NP_001051.1:n.*162A>G | |
| NM_201636.2:c.983+211A>G | NP_963998.2:n.983+211A>G | |
| NM_001060.6:c.*162A>G MANE Select | NP_001051.1:n.*162A>G | |
| NM_201636.3:c.983+211A>G | NP_963998.2:n.983+211A>G |