Linked Data
ClinVar Variation Id:
1150
dbSNP Id:
rs121918328
gnomAD v2:
4-123663912-G-C
gnomAD v4:
4-122742757-G-C
PubMed:
PMID:17160889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742757G>C , CM000666.2:g.122742757G>C | GRCh38 |
| NC_000004.11:g.123663912G>C , CM000666.1:g.123663912G>C | GRCh37 |
| NC_000004.10:g.123883362G>C | NCBI36 |
| NG_021203.1:g.15056G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.865G>C MANE Select | ENSP00000319062.3:p.Ala289Pro | |
| ENST00000314218.7:c.865G>C | ENSP00000319062.3:p.Ala289Pro | |
| ENST00000542236.5:c.865G>C | ENSP00000438273.1:p.Ala289Pro | |
| NM_001178007.1:c.865G>C | NP_001171478.1:p.Ala289Pro | |
| NM_152618.2:c.865G>C | NP_689831.2:p.Ala289Pro | |
| XM_011531680.1:c.865G>C | XP_011529982.1:p.Ala289Pro | |
| XM_011531680.2:c.865G>C | XP_011529982.1:p.Ala289Pro | |
| XM_017007831.1:c.865G>C | XP_016863320.1:p.Ala289Pro | |
| NM_152618.3:c.865G>C MANE Select | NP_689831.2:p.Ala289Pro | |
| NM_001178007.2:c.865G>C | NP_001171478.1:p.Ala289Pro |