Linked Data
ClinVar Variation Id:
31006
dbSNP Id:
rs200519776
ExAC:
7:120428830 A / G
gnomAD v2:
7-120428830-A-G
gnomAD v3:
7-120788776-A-G
gnomAD v4:
7-120788776-A-G
PubMed:
PMID:21334594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788776A>G , CM000669.2:g.120788776A>G | GRCh38 |
| NC_000007.13:g.120428830A>G , CM000669.1:g.120428830A>G | GRCh37 |
| NC_000007.12:g.120216066A>G | NCBI36 |
| NG_023203.1:g.74348T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.734T>C MANE Select | ENSP00000222747.3:p.Leu245Pro | |
| ENST00000222747.7:c.734T>C | ENSP00000222747.3:p.Leu245Pro | |
| ENST00000415871.5:c.734T>C | ENSP00000397699.1:p.Leu245Pro | |
| ENST00000450414.5:c.713T>C | ENSP00000397411.1:n.713T>C | |
| NM_012338.3:c.734T>C | NP_036470.1:p.Leu245Pro | |
| XM_005250239.1:c.734T>C | XP_005250296.1:p.Leu245Pro | |
| XM_011515993.1:c.734T>C | XP_011514295.1:p.Leu245Pro | |
| XM_011515994.1:c.734T>C | XP_011514296.1:p.Leu245Pro | |
| XM_005250239.3:c.734T>C | XP_005250296.1:p.Leu245Pro | |
| XM_017011913.1:c.659T>C | XP_016867402.1:p.Leu220Pro | |
| NM_012338.4:c.734T>C MANE Select | NP_036470.1:p.Leu245Pro |