Linked Data
ClinVar Variation Id:
1898921
ClinVar RCV Id:
RCV002574155
dbSNP Id:
rs750173812
gnomAD v2:
19-12758085-C-G
gnomAD v4:
19-12647271-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647271C>G , CM000681.2:g.12647271C>G | GRCh38 |
| NC_000019.9:g.12758085C>G , CM000681.1:g.12758085C>G | GRCh37 |
| NC_000019.8:g.12619085C>G | NCBI36 |
| NG_008318.1:g.24507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2885G>C MANE Select | ENSP00000395473.2:p.Arg962Pro | |
| ENST00000221363.8:c.2882G>C | ENSP00000221363.4:p.Arg961Pro | |
| ENST00000456935.6:c.2885G>C | ENSP00000395473.2:p.Arg962Pro | |
| ENST00000466794.5:n.3475G>C | ||
| ENST00000469423.1:n.314G>C | ||
| ENST00000493218.5:n.296G>C | ||
| ENST00000597692.1:c.444G>C | ||
| NM_000528.3:c.2885G>C | NP_000519.2:p.Arg962Pro | |
| NM_001173498.1:c.2882G>C | NP_001166969.1:p.Arg961Pro | |
| XM_005259913.1:c.2888G>C | XP_005259970.1:p.Arg963Pro | |
| XM_011528017.1:c.1784G>C | XP_011526319.1:p.Arg595Pro | |
| XM_005259913.2:c.2888G>C | XP_005259970.1:p.Arg963Pro | |
| XM_024451518.1:c.1784G>C | XP_024307286.1:p.Arg595Pro | |
| NM_000528.4:c.2885G>C MANE Select | NP_000519.2:p.Arg962Pro | |
| NM_001173498.2:c.2882G>C | NP_001166969.1:p.Arg961Pro |