Linked Data
ClinVar Variation Id:
208279
ClinVar RCV Id:
RCV000206972
dbSNP Id:
rs139041112
gnomAD v4:
19-12647307-C-G
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647307C>G , CM000681.2:g.12647307C>G | GRCh38 |
| NC_000019.9:g.12758121C>G , CM000681.1:g.12758121C>G | GRCh37 |
| NC_000019.8:g.12619121C>G | NCBI36 |
| NG_008318.1:g.24471G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2849G>C MANE Select | ENSP00000395473.2:p.Arg950Pro | |
| ENST00000221363.8:c.2846G>C | ENSP00000221363.4:p.Arg949Pro | |
| ENST00000456935.6:c.2849G>C | ENSP00000395473.2:p.Arg950Pro | |
| ENST00000466794.5:n.3439G>C | ||
| ENST00000469423.1:n.278G>C | ||
| ENST00000493218.5:n.260G>C | ||
| ENST00000597692.1:c.408G>C | ||
| NM_000528.3:c.2849G>C | NP_000519.2:p.Arg950Pro | |
| NM_001173498.1:c.2846G>C | NP_001166969.1:p.Arg949Pro | |
| XM_005259913.1:c.2852G>C | XP_005259970.1:p.Arg951Pro | |
| XM_011528017.1:c.1748G>C | XP_011526319.1:p.Arg583Pro | |
| XM_005259913.2:c.2852G>C | XP_005259970.1:p.Arg951Pro | |
| XM_024451518.1:c.1748G>C | XP_024307286.1:p.Arg583Pro | |
| NM_000528.4:c.2849G>C MANE Select | NP_000519.2:p.Arg950Pro | |
| NM_001173498.2:c.2846G>C | NP_001166969.1:p.Arg949Pro |