Linked Data
ClinVar Variation Id:
713582
ClinVar RCV Id:
RCV000885748
dbSNP Id:
rs146261696
ExAC:
17:39778711 G / A
gnomAD v2:
17-39778711-G-A
gnomAD v3:
17-41622459-G-A
gnomAD v4:
17-41622459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41622459G>A , CM000679.2:g.41622459G>A | GRCh38 |
| NC_000017.10:g.39778711G>A , CM000679.1:g.39778711G>A | GRCh37 |
| NC_000017.9:g.37032237G>A | NCBI36 |
| NG_008625.1:g.7172C>T | |
| NG_009090.2:g.169254C>T , LRG_401:g.169254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.568C>T MANE Select | ENSP00000308452.8:p.Leu190= | |
| ENST00000311208.12:c.568C>T | ENSP00000308452.8:p.Leu190= | |
| ENST00000463128.5:c.-48C>T | ENSP00000468672.1:n.-48C>T | |
| ENST00000493253.5:n.355C>T | ||
| ENST00000540235.5:c.319C>T | ENSP00000441751.2:p.Leu107= | |
| ENST00000577817.3:c.471-8C>T | ENSP00000467418.1:n.471-8C>T | |
| ENST00000590038.1:c.-48C>T | ENSP00000466166.1:n.-48C>T | |
| NM_000422.2:c.568C>T | NP_000413.1:p.Leu190= | |
| NM_000422.3:c.568C>T MANE Select | NP_000413.1:p.Leu190= |