Linked Data
ClinVar Variation Id:
465661
ClinVar RCV Id:
RCV000543553
dbSNP Id:
rs1555193817
gnomAD v4:
12-57244152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57244152T>C , CM000674.2:g.57244152T>C | GRCh38 |
| NC_000012.11:g.57637935T>C , CM000674.1:g.57637935T>C | GRCh37 |
| NC_000012.10:g.55924202T>C | NCBI36 |
| NG_033835.1:g.12042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332782.7:c.932A>G MANE Select | ENSP00000329200.2:p.His311Arg | |
| ENST00000332782.6:c.932A>G | ENSP00000329200.2:p.His311Arg | |
| ENST00000546246.2:c.374A>G | ENSP00000441515.2:p.His125Arg | |
| ENST00000554578.5:c.815A>G | ENSP00000452068.1:p.His272Arg | |
| ENST00000557176.5:c.307A>G | ENSP00000450740.1:p.Thr103Ala | |
| NM_001286256.1:c.815A>G | NP_001273185.1:p.His272Arg | |
| NM_001286257.1:c.374A>G | NP_001273186.1:p.His125Arg | |
| NM_145064.2:c.932A>G | NP_659501.1:p.His311Arg | |
| NR_104422.1:n.634A>G | ||
| XM_011538126.1:c.932A>G | XP_011536428.1:p.His311Arg | |
| XR_944515.1:n.1061A>G | ||
| XM_011538126.2:c.932A>G | XP_011536428.1:p.His311Arg | |
| XR_002957305.1:n.1231A>G | ||
| XR_944515.2:n.1061A>G | ||
| NM_145064.3:c.932A>G MANE Select | NP_659501.1:p.His311Arg | |
| NM_001286256.2:c.815A>G | NP_001273185.1:p.His272Arg | |
| NM_001286257.2:c.374A>G | NP_001273186.1:p.His125Arg | |
| NR_104422.2:n.628A>G |