Linked Data
ClinVar Variation Id:
1986621
ClinVar RCV Id:
RCV002805563
dbSNP Id:
rs1157438695
gnomAD v4:
11-61393948-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393948T>A , CM000673.2:g.61393948T>A | GRCh38 |
| NC_000011.9:g.61161420T>A , CM000673.1:g.61161420T>A | GRCh37 |
| NC_000011.8:g.60917996T>A | NCBI36 |
| NG_032976.1:g.6589T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.201T>A | ENSP00000334844.5:p.Leu67= | |
| ENST00000544795.6:n.478T>A | ||
| ENST00000684926.1:n.217T>A | ||
| ENST00000688959.1:c.-59T>A | ENSP00000509213.1:n.-59T>A | |
| ENST00000690736.1:c.201T>A | ENSP00000508542.1:p.Leu67= | |
| ENST00000515837.7:c.201T>A MANE Select | ENSP00000440638.1:p.Leu67= | |
| ENST00000334888.9:c.201T>A | ENSP00000334844.5:p.Leu67= | |
| ENST00000398979.7:c.18T>A | ENSP00000381950.3:p.Leu6= | |
| ENST00000515837.6:c.201T>A | ENSP00000440638.1:p.Leu67= | |
| ENST00000541473.1:n.215T>A | ||
| ENST00000544795.5:n.217T>A | ||
| NM_001173990.2:c.201T>A | NP_001167461.1:p.Leu67= | |
| NM_001173991.2:c.201T>A | NP_001167462.1:p.Leu67= | |
| NM_016499.5:c.18T>A | NP_057583.2:p.Leu6= | |
| XM_005274039.3:c.18T>A | XP_005274096.1:p.Leu6= | |
| NM_001330285.1:c.18T>A | NP_001317214.1:p.Leu6= | |
| XM_005274039.4:c.18T>A | XP_005274096.1:p.Leu6= | |
| NM_001173990.3:c.201T>A MANE Select | NP_001167461.1:p.Leu67= | |
| NM_001173991.3:c.201T>A | NP_001167462.1:p.Leu67= | |
| NM_001330285.2:c.18T>A | NP_001317214.1:p.Leu6= | |
| NM_016499.6:c.18T>A | NP_057583.2:p.Leu6= |