Linked Data
ClinVar Variation Id:
2056124
ClinVar RCV Id:
RCV002938397
dbSNP Id:
rs764263944
ExAC:
19:7589969 C / G
gnomAD v2:
19-7589969-C-G
gnomAD v4:
19-7525083-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525083C>G , CM000681.2:g.7525083C>G | GRCh38 |
| NC_000019.9:g.7589969C>G , CM000681.1:g.7589969C>G | GRCh37 |
| NC_000019.8:g.7495969C>G | NCBI36 |
| NG_015806.1:g.7474C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.154C>G MANE Select | ENSP00000264079.5:p.Pro52Ala | |
| ENST00000264079.10:c.154C>G | ENSP00000264079.5:p.Pro52Ala | |
| ENST00000394321.9:n.234C>G | ||
| ENST00000596390.1:n.270C>G | ||
| ENST00000601003.1:c.154C>G | ENSP00000469074.1:p.Pro52Ala | |
| NM_020533.2:c.154C>G | NP_065394.1:p.Pro52Ala | |
| NM_020533.3:c.154C>G MANE Select | NP_065394.1:p.Pro52Ala |