Linked Data
ClinVar Variation Id:
544665
dbSNP Id:
rs199603472
ExAC:
3:52428959 T / C
gnomAD v2:
3-52428959-T-C
gnomAD v3:
3-52394943-T-C
gnomAD v4:
3-52394943-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52394943T>C , CM000665.2:g.52394943T>C | GRCh38 |
| NC_000003.11:g.52428959T>C , CM000665.1:g.52428959T>C | GRCh37 |
| NC_000003.10:g.52403999T>C | NCBI36 |
| NG_052911.1:g.83625T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.10852T>C MANE Select | ENSP00000401514.2:p.Tyr3618His | |
| ENST00000420323.6:c.10852T>C | ENSP00000401514.2:p.Tyr3618His | |
| ENST00000486752.5:n.11309T>C | ||
| ENST00000487254.1:n.347T>C | ||
| ENST00000488988.5:n.2638T>C | ||
| ENST00000490713.5:c.1552T>C | ENSP00000419071.1:p.Tyr518His | |
| NM_015512.4:c.10852T>C | NP_056327.4:p.Tyr3618His | |
| XM_011533577.1:c.10921T>C | XP_011531879.1:p.Tyr3641His | |
| XM_017006129.1:c.10921T>C | XP_016861618.1:p.Tyr3641His | |
| XM_017006130.1:c.10852T>C | XP_016861619.1:p.Tyr3618His | |
| XM_017006131.1:c.10795T>C | XP_016861620.1:p.Tyr3599His | |
| XR_001740098.1:n.14070T>C | ||
| XR_001740099.1:n.14070T>C | ||
| NM_015512.5:c.10852T>C MANE Select | NP_056327.4:p.Tyr3618His |