Linked Data
ClinVar Variation Id:
627148
ClinVar RCV Id:
RCV000851900
dbSNP Id:
rs201364793
gnomAD v3:
19-3595872-G-C
gnomAD v4:
19-3595872-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595872G>C , CM000681.2:g.3595872G>C | GRCh38 |
| NC_000019.9:g.3595870G>C , CM000681.1:g.3595870G>C | GRCh37 |
| NC_000019.8:g.3546870G>C | NCBI36 |
| NG_013363.1:g.15962C>G , LRG_578:g.15962C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.848C>G MANE Select | ENSP00000364336.4:p.Ser283Cys | |
| ENST00000375190.8:c.848C>G | ENSP00000364336.3:p.Ser283Cys | |
| ENST00000411851.3:c.848C>G | ENSP00000393333.2:p.Ser283Cys | |
| ENST00000589966.1:c.459C>G | ENSP00000468145.1:p.Val153= | |
| NM_001060.5:c.848C>G , LRG_578t1:c.848C>G | NP_001051.1:p.Ser283Cys | |
| NM_201636.2:c.848C>G | NP_963998.2:p.Ser283Cys | |
| XM_011528214.1:c.848C>G | XP_011526516.1:p.Ser283Cys | |
| XM_011528214.2:c.848C>G | XP_011526516.1:p.Ser283Cys | |
| NM_001060.6:c.848C>G MANE Select | NP_001051.1:p.Ser283Cys | |
| NM_201636.3:c.848C>G | NP_963998.2:p.Ser283Cys |