Linked Data
ClinVar Variation Id:
1169207
ClinVar RCV Id:
RCV001520143
dbSNP Id:
rs763110010
ExAC:
16:18809338 G / A
gnomAD v2:
16-18809338-G-A
gnomAD v3:
16-18798016-G-A
gnomAD v4:
16-18798016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18798016G>A , CM000678.2:g.18798016G>A | GRCh38 |
| NC_000016.9:g.18809338G>A , CM000678.1:g.18809338G>A | GRCh37 |
| NC_000016.8:g.18716839G>A | NCBI36 |
| NG_042860.1:g.8663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.199C>T MANE Select | ENSP00000306788.7:p.Leu67= | |
| ENST00000304414.11:c.199C>T | ENSP00000306788.7:p.Leu67= | |
| ENST00000546206.6:c.112C>T | ENSP00000440048.2:p.Leu38= | |
| ENST00000562234.2:c.149-64C>T | ENSP00000455341.2:n.149-64C>T | |
| ENST00000562819.5:c.148+707C>T | ENSP00000457372.1:n.148+707C>T | |
| ENST00000563861.5:c.199C>T | ENSP00000456596.1:p.Leu67= | |
| ENST00000567078.2:c.199C>T | ENSP00000454746.2:p.Leu67= | |
| ENST00000567969.1:n.277C>T | ||
| ENST00000569976.5:n.281C>T | ||
| NM_001313858.1:c.112C>T | NP_001300787.1:p.Leu38= | |
| NM_015161.1:c.199C>T | NP_055976.1:p.Leu67= | |
| NM_015161.2:c.199C>T | NP_055976.1:p.Leu67= | |
| NM_015161.3:c.199C>T MANE Select | NP_055976.1:p.Leu67= |