Linked Data
ClinVar Variation Id:
658829
ClinVar RCV Id:
RCV000815723
dbSNP Id:
rs768399393
ExAC:
3:128199993 C / A
gnomAD v2:
3-128199993-C-A
gnomAD v3:
3-128481150-C-A
gnomAD v4:
3-128481150-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481150C>A , CM000665.2:g.128481150C>A | GRCh38 |
| NC_000003.11:g.128199993C>A , CM000665.1:g.128199993C>A | GRCh37 |
| NC_000003.10:g.129682683C>A | NCBI36 |
| NG_029334.1:g.17038G>T , LRG_295:g.17038G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1312G>T MANE Plus Clinical | ENSP00000417074.1:p.Ala438Ser | |
| ENST00000696466.1:c.1594G>T | ENSP00000512647.1:p.Ala532Ser | |
| ENST00000696672.1:c.287G>T | ENSP00000512796.1:p.Gly96Val | |
| ENST00000341105.7:c.1312G>T MANE Select | ENSP00000345681.2:p.Ala438Ser | |
| ENST00000341105.6:c.1312G>T | ENSP00000345681.2:p.Ala438Ser | |
| ENST00000430265.6:c.1270G>T | ENSP00000400259.2:p.Ala424Ser | |
| ENST00000487848.5:c.1312G>T | ENSP00000417074.1:p.Ala438Ser | |
| ENST00000489987.1:n.429G>T | ||
| NM_001145661.1:c.1312G>T , LRG_295t1:c.1312G>T | NP_001139133.1:p.Ala438Ser | |
| NM_001145662.1:c.1270G>T | NP_001139134.1:p.Ala424Ser | |
| NM_032638.4:c.1312G>T , LRG_295t2:c.1312G>T | NP_116027.2:p.Ala438Ser | |
| NM_001145661.2:c.1312G>T MANE Plus Clinical | NP_001139133.1:p.Ala438Ser | |
| NM_032638.5:c.1312G>T MANE Select | NP_116027.2:p.Ala438Ser |