Linked Data
ClinVar Variation Id:
241717
ClinVar RCV Id:
RCV000231179
dbSNP Id:
rs878855168
gnomAD v4:
3-128481103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481103C>T , CM000665.2:g.128481103C>T | GRCh38 |
| NC_000003.11:g.128199946C>T , CM000665.1:g.128199946C>T | GRCh37 |
| NC_000003.10:g.129682636C>T | NCBI36 |
| NG_029334.1:g.17085G>A , LRG_295:g.17085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1359G>A MANE Plus Clinical | ENSP00000417074.1:p.Leu453= | |
| ENST00000696466.1:c.1641G>A | ENSP00000512647.1:p.Leu547= | |
| ENST00000696672.1:c.334G>A | ENSP00000512796.1:p.Ala112Thr | |
| ENST00000341105.7:c.1359G>A MANE Select | ENSP00000345681.2:p.Leu453= | |
| ENST00000341105.6:c.1359G>A | ENSP00000345681.2:p.Leu453= | |
| ENST00000430265.6:c.1317G>A | ENSP00000400259.2:p.Leu439= | |
| ENST00000487848.5:c.1359G>A | ENSP00000417074.1:p.Leu453= | |
| ENST00000489987.1:n.476G>A | ||
| NM_001145661.1:c.1359G>A , LRG_295t1:c.1359G>A | NP_001139133.1:p.Leu453= | |
| NM_001145662.1:c.1317G>A | NP_001139134.1:p.Leu439= | |
| NM_032638.4:c.1359G>A , LRG_295t2:c.1359G>A | NP_116027.2:p.Leu453= | |
| NM_001145661.2:c.1359G>A MANE Plus Clinical | NP_001139133.1:p.Leu453= | |
| NM_032638.5:c.1359G>A MANE Select | NP_116027.2:p.Leu453= |