Linked Data
dbSNP Id:
rs4987258
gnomAD v2:
19-3595444-G-C
gnomAD v3:
19-3595446-G-C
gnomAD v4:
19-3595446-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595446G>C , CM000681.2:g.3595446G>C | GRCh38 |
| NC_000019.9:g.3595444G>C , CM000681.1:g.3595444G>C | GRCh37 |
| NC_000019.8:g.3546444G>C | NCBI36 |
| NG_013363.1:g.16388C>G , LRG_578:g.16388C>G | |
| NG_031943.1:g.14876G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*242C>G MANE Select | ENSP00000364336.4:n.*242C>G | |
| ENST00000375190.8:c.*242C>G | ENSP00000364336.3:n.*242C>G | |
| ENST00000411851.3:c.983+291C>G | ENSP00000393333.2:n.983+291C>G | |
| ENST00000589966.1:c.*105C>G | ENSP00000468145.1:n.*105C>G | |
| NM_001060.5:c.*242C>G , LRG_578t1:c.*242C>G | NP_001051.1:n.*242C>G | |
| NM_201636.2:c.983+291C>G | NP_963998.2:n.983+291C>G | |
| NM_001060.6:c.*242C>G MANE Select | NP_001051.1:n.*242C>G | |
| NM_201636.3:c.983+291C>G | NP_963998.2:n.983+291C>G |