Linked Data
ClinVar Variation Id:
2990297
ClinVar RCV Id:
RCV003844992
dbSNP Id:
rs748532736
ExAC:
19:3595895 C / G
gnomAD v2:
19-3595895-C-G
gnomAD v3:
19-3595897-C-G
gnomAD v4:
19-3595897-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595897C>G , CM000681.2:g.3595897C>G | GRCh38 |
| NC_000019.9:g.3595895C>G , CM000681.1:g.3595895C>G | GRCh37 |
| NC_000019.8:g.3546895C>G | NCBI36 |
| NG_013363.1:g.15937G>C , LRG_578:g.15937G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.823G>C MANE Select | ENSP00000364336.4:p.Ala275Pro | |
| ENST00000375190.8:c.823G>C | ENSP00000364336.3:p.Ala275Pro | |
| ENST00000411851.3:c.823G>C | ENSP00000393333.2:p.Ala275Pro | |
| ENST00000589966.1:c.434G>C | ENSP00000468145.1:p.Cys145Ser | |
| NM_001060.5:c.823G>C , LRG_578t1:c.823G>C | NP_001051.1:p.Ala275Pro | |
| NM_201636.2:c.823G>C | NP_963998.2:p.Ala275Pro | |
| XM_011528214.1:c.823G>C | XP_011526516.1:p.Ala275Pro | |
| XM_011528214.2:c.823G>C | XP_011526516.1:p.Ala275Pro | |
| NM_001060.6:c.823G>C MANE Select | NP_001051.1:p.Ala275Pro | |
| NM_201636.3:c.823G>C | NP_963998.2:p.Ala275Pro |