Linked Data
ClinVar Variation Id:
707322
ClinVar RCV Id:
RCV000878265
dbSNP Id:
rs947420881
gnomAD v2:
3-128202775-C-G
gnomAD v3:
3-128483932-C-G
gnomAD v4:
3-128483932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128483932C>G , CM000665.2:g.128483932C>G | GRCh38 |
| NC_000003.11:g.128202775C>G , CM000665.1:g.128202775C>G | GRCh37 |
| NC_000003.10:g.129685465C>G | NCBI36 |
| NG_029334.1:g.14256G>C , LRG_295:g.14256G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.945G>C MANE Plus Clinical | ENSP00000417074.1:p.Leu315= | |
| ENST00000696466.1:c.1227G>C | ENSP00000512647.1:p.Leu409= | |
| ENST00000341105.7:c.945G>C MANE Select | ENSP00000345681.2:p.Leu315= | |
| ENST00000341105.6:c.945G>C | ENSP00000345681.2:p.Leu315= | |
| ENST00000430265.6:c.945G>C | ENSP00000400259.2:p.Leu315= | |
| ENST00000487848.5:c.945G>C | ENSP00000417074.1:p.Leu315= | |
| NM_001145661.1:c.945G>C , LRG_295t1:c.945G>C | NP_001139133.1:p.Leu315= | |
| NM_001145662.1:c.945G>C | NP_001139134.1:p.Leu315= | |
| NM_032638.4:c.945G>C , LRG_295t2:c.945G>C | NP_116027.2:p.Leu315= | |
| NM_001145661.2:c.945G>C MANE Plus Clinical | NP_001139133.1:p.Leu315= | |
| NM_032638.5:c.945G>C MANE Select | NP_116027.2:p.Leu315= |