Linked Data
ClinVar Variation Id:
1983700
ClinVar RCV Id:
RCV002770400
dbSNP Id:
rs1398593449
gnomAD v2:
3-48612968-G-T
gnomAD v4:
3-48575535-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48575535G>T , CM000665.2:g.48575535G>T | GRCh38 |
| NC_000003.11:g.48612968G>T , CM000665.1:g.48612968G>T | GRCh37 |
| NC_000003.10:g.48587972G>T | NCBI36 |
| NG_007065.1:g.24718C>A , LRG_286:g.24718C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.5984C>A MANE Select | ENSP00000506558.1:p.Pro1995His | |
| ENST00000328333.12:c.5984C>A | ENSP00000332371.8:p.Pro1995His | |
| ENST00000487017.5:n.1901C>A | ||
| NM_000094.3:c.5984C>A , LRG_286t1:c.5984C>A | NP_000085.1:p.Pro1995His | |
| XM_011533336.1:c.6011C>A | XP_011531638.1:p.Pro2004His | |
| XM_011533337.1:c.5984C>A | XP_011531639.1:p.Pro1995His | |
| XM_011533338.1:c.6011C>A | XP_011531640.1:p.Pro2004His | |
| XM_011533339.1:c.6011C>A | XP_011531641.1:p.Pro2004His | |
| XM_011533340.1:c.6011C>A | XP_011531642.1:p.Pro2004His | |
| XM_011533341.1:c.6011C>A | XP_011531643.1:p.Pro2004His | |
| XM_011533342.1:c.6011C>A | XP_011531644.1:p.Pro2004His | |
| XR_940369.1:n.6047C>A | ||
| XR_940370.1:n.6047C>A | ||
| XR_940371.1:n.6047C>A | ||
| XR_940372.1:n.6047C>A | ||
| XR_940373.1:n.6047C>A | ||
| XR_940374.1:n.6047C>A | ||
| XR_940375.1:n.6047C>A | ||
| XM_017005688.1:c.5984C>A | XP_016861177.1:p.Pro1995His | |
| XM_017005689.1:c.5984C>A | XP_016861178.1:p.Pro1995His | |
| XM_017005690.1:c.5984C>A | XP_016861179.1:p.Pro1995His | |
| XM_017005691.1:c.5984C>A | XP_016861180.1:p.Pro1995His | |
| XM_017005692.1:c.5984C>A | XP_016861181.1:p.Pro1995His | |
| XR_001740003.1:n.6020C>A | ||
| XR_001740004.1:n.6020C>A | ||
| XR_001740005.1:n.6020C>A | ||
| XR_001740006.1:n.6020C>A | ||
| XR_001740007.1:n.6020C>A | ||
| XR_001740008.1:n.6020C>A | ||
| XR_001740009.1:n.6020C>A | ||
| NM_000094.4:c.5984C>A MANE Select | NP_000085.1:p.Pro1995His |