Linked Data
ClinVar Variation Id:
2909254
ClinVar RCV Id:
RCV003732129
dbSNP Id:
rs752000215
ExAC:
19:6682039 C / T
gnomAD v2:
19-6682039-C-T
gnomAD v3:
19-6682028-C-T
gnomAD v4:
19-6682028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682028C>T , CM000681.2:g.6682028C>T | GRCh38 |
| NC_000019.9:g.6682039C>T , CM000681.1:g.6682039C>T | GRCh37 |
| NC_000019.8:g.6633039C>T | NCBI36 |
| NG_009557.1:g.43624G>A , LRG_27:g.43624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2611G>A | ||
| ENST00000695653.1:c.2172G>A | ENSP00000512084.1:p.Leu724= | |
| ENST00000695654.1:c.3288G>A | ENSP00000512085.1:p.Leu1096= | |
| ENST00000695689.1:c.234G>A | ENSP00000512101.1:n.234G>A | |
| ENST00000695690.1:n.454G>A | ||
| ENST00000695691.1:n.454G>A | ||
| ENST00000245907.11:c.4263G>A MANE Select | ENSP00000245907.4:p.Leu1421= | |
| ENST00000245907.10:c.4263G>A | ENSP00000245907.4:p.Leu1421= | |
| ENST00000596548.1:c.384G>A | ENSP00000469744.1:p.Leu128= | |
| ENST00000599899.5:n.1222G>A | ||
| ENST00000601008.1:c.242-4070G>A | ENSP00000471384.1:n.242-4070G>A | |
| NM_000064.3:c.4263G>A | NP_000055.2:p.Leu1421= | |
| NM_000064.4:c.4263G>A MANE Select | NP_000055.2:p.Leu1421= |