Linked Data
ClinVar Variation Id:
375899
ClinVar RCV Id:
RCV000419300
RCV000419085
RCV000421119
RCV000423895
RCV000425569
RCV000429410
RCV000430443
RCV000431372
RCV000435921
RCV000434648
RCV000440512
RCV000440705
RCV000441426
dbSNP Id:
rs397517201
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218307A>T , CM000665.2:g.179218307A>T | GRCh38 |
| NC_000003.11:g.178936095A>T , CM000665.1:g.178936095A>T | GRCh37 |
| NC_000003.10:g.180418789A>T | NCBI36 |
| NG_012113.2:g.74785A>T , LRG_310:g.74785A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1637A>T MANE Select | ENSP00000263967.3:p.Gln546Leu | |
| ENST00000462255.2:n.99A>T | ||
| ENST00000643187.1:c.1637A>T | ENSP00000493507.1:p.Gln546Leu | |
| ENST00000674534.1:n.1391A>T | ||
| ENST00000674622.1:c.140A>T | ENSP00000502417.1:p.Gln47Leu | |
| ENST00000675467.1:n.4444A>T | ||
| ENST00000675786.1:c.*204A>T | ENSP00000502323.1:n.*204A>T | |
| ENST00000263967.3:c.1637A>T | ENSP00000263967.3:p.Gln546Leu | |
| NM_006218.2:c.1637A>T , LRG_310t1:c.1637A>T | NP_006209.2:p.Gln546Leu | |
| XM_006713658.2:c.1637A>T | XP_006713721.1:p.Gln546Leu | |
| XM_011512894.1:c.1637A>T | XP_011511196.1:p.Gln546Leu | |
| NM_006218.3:c.1637A>T | NP_006209.2:p.Gln546Leu | |
| XM_006713658.4:c.1637A>T | XP_006713721.1:p.Gln546Leu | |
| XM_011512894.2:c.1637A>T | XP_011511196.1:p.Gln546Leu | |
| NM_006218.4:c.1637A>T MANE Select | NP_006209.2:p.Gln546Leu |