Linked Data
ClinVar Variation Id:
16077
ClinVar RCV Id:
RCV000017457
RCV000264554
RCV000288622
RCV000385220
RCV000454952
RCV001154195
RCV001516300
RCV002490378
dbSNP Id:
rs4151667
ExAC:
6:31914024 T / A
gnomAD v2:
6-31914024-T-A
gnomAD v3:
6-31946247-T-A
gnomAD v4:
6-31946247-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946247T>A , CM000668.2:g.31946247T>A | GRCh38 |
| NC_000006.11:g.31914024T>A , CM000668.1:g.31914024T>A | GRCh37 |
| NC_000006.10:g.32022003T>A | NCBI36 |
| NG_008191.1:g.5304T>A , LRG_136:g.5304T>A | |
| NG_011730.1:g.23759T>A , LRG_26:g.23759T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.203T>A | ||
| ENST00000483004.2:c.26T>A | ENSP00000419887.2:p.Leu9His | |
| ENST00000497841.6:c.26T>A | ENSP00000513847.1:p.Leu9His | |
| ENST00000698628.1:c.26T>A | ENSP00000513848.1:p.Leu9His | |
| ENST00000698629.1:n.203T>A | ||
| ENST00000698630.1:n.187T>A | ||
| ENST00000698631.1:n.182T>A | ||
| ENST00000698632.1:n.154T>A | ||
| ENST00000698633.1:n.124T>A | ||
| ENST00000698636.1:n.248T>A | ||
| ENST00000425368.7:c.26T>A MANE Select | ENSP00000416561.2:p.Leu9His | |
| ENST00000425368.6:c.26T>A | ENSP00000416561.2:p.Leu9His | |
| ENST00000452035.6:n.26T>A | ||
| ENST00000456570.5:c.1571-126T>A | ENSP00000410815.1:n.1571-126T>A | |
| ENST00000460718.5:c.26T>A | ENSP00000417793.1:p.Leu9His | |
| ENST00000472581.1:n.273T>A | ||
| ENST00000475617.5:c.26T>A | ENSP00000420090.1:p.Leu9His | |
| ENST00000477310.1:c.1352-760T>A | ENSP00000418996.1:n.1352-760T>A | |
| NM_001710.5:c.26T>A , LRG_136t1:c.26T>A | NP_001701.2:p.Leu9His | |
| NM_001710.6:c.26T>A MANE Select | NP_001701.2:p.Leu9His |