Linked Data
ClinVar Variation Id:
241716
ClinVar RCV Id:
RCV000227295
RCV000504452
RCV001084371
RCV001146587
RCV002257600
RCV003320354
RCV003891822
dbSNP Id:
rs143590990
ExAC:
3:128205754 G / C
gnomAD v2:
3-128205754-G-C
gnomAD v3:
3-128486911-G-C
gnomAD v4:
3-128486911-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128486911G>C , CM000665.2:g.128486911G>C | GRCh38 |
| NC_000003.11:g.128205754G>C , CM000665.1:g.128205754G>C | GRCh37 |
| NC_000003.10:g.129688444G>C | NCBI36 |
| NG_029334.1:g.11277C>G , LRG_295:g.11277C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.121C>G MANE Plus Clinical | ENSP00000417074.1:p.Pro41Ala | |
| ENST00000696466.1:c.403C>G | ENSP00000512647.1:p.Pro135Ala | |
| ENST00000696652.1:c.121C>G | ENSP00000512781.1:p.Pro41Ala | |
| ENST00000696653.1:c.121C>G | ENSP00000512782.1:p.Pro41Ala | |
| ENST00000696654.1:c.121C>G | ENSP00000512783.1:p.Pro41Ala | |
| ENST00000696661.1:c.121C>G | ENSP00000512787.1:p.Pro41Ala | |
| ENST00000341105.7:c.121C>G MANE Select | ENSP00000345681.2:p.Pro41Ala | |
| ENST00000341105.6:c.121C>G | ENSP00000345681.2:p.Pro41Ala | |
| ENST00000430265.6:c.121C>G | ENSP00000400259.2:p.Pro41Ala | |
| ENST00000487848.5:c.121C>G | ENSP00000417074.1:p.Pro41Ala | |
| ENST00000492608.1:c.121C>G | ENSP00000418132.1:p.Pro41Ala | |
| NM_001145661.1:c.121C>G , LRG_295t1:c.121C>G | NP_001139133.1:p.Pro41Ala | |
| NM_001145662.1:c.121C>G | NP_001139134.1:p.Pro41Ala | |
| NM_032638.4:c.121C>G , LRG_295t2:c.121C>G | NP_116027.2:p.Pro41Ala | |
| NM_001145661.2:c.121C>G MANE Plus Clinical | NP_001139133.1:p.Pro41Ala | |
| NM_032638.5:c.121C>G MANE Select | NP_116027.2:p.Pro41Ala |