Linked Data
dbSNP Id:
rs529514617
ExAC:
19:3595735 C / G
gnomAD v2:
19-3595735-C-G
gnomAD v3:
19-3595737-C-G
gnomAD v4:
19-3595737-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595737C>G , CM000681.2:g.3595737C>G | GRCh38 |
| NC_000019.9:g.3595735C>G , CM000681.1:g.3595735C>G | GRCh37 |
| NC_000019.8:g.3546735C>G | NCBI36 |
| NG_013363.1:g.16097G>C , LRG_578:g.16097G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.983G>C MANE Select | ENSP00000364336.4:p.Arg328Thr | |
| ENST00000375190.8:c.983G>C | ENSP00000364336.3:p.Arg328Thr | |
| ENST00000411851.3:c.983G>C | ENSP00000393333.2:p.Arg328Thr | |
| ENST00000589966.1:c.594G>C | ENSP00000468145.1:p.Gln198His | |
| NM_001060.5:c.983G>C , LRG_578t1:c.983G>C | NP_001051.1:p.Arg328Thr | |
| NM_201636.2:c.983G>C | NP_963998.2:p.Arg328Thr | |
| XM_011528214.1:c.983G>C | XP_011526516.1:p.Arg328Thr | |
| XM_011528214.2:c.983G>C | XP_011526516.1:p.Arg328Thr | |
| NM_001060.6:c.983G>C MANE Select | NP_001051.1:p.Arg328Thr | |
| NM_201636.3:c.983G>C | NP_963998.2:p.Arg328Thr |