Linked Data
ClinVar Variation Id:
629360
ClinVar RCV Id:
RCV000774062
dbSNP Id:
rs1559359985
gnomAD v4:
3-14129434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129434G>A , CM000665.2:g.14129434G>A | GRCh38 |
| NC_000003.11:g.14170934G>A , CM000665.1:g.14170934G>A | GRCh37 |
| NC_000003.10:g.14145935G>A | NCBI36 |
| NG_008975.1:g.9495G>A , LRG_435:g.9495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*65G>A | ENSP00000395617.1:n.*65G>A | |
| ENST00000306077.5:c.35G>A MANE Select | ENSP00000303992.5:p.Arg12Lys | |
| ENST00000306077.4:c.35G>A | ENSP00000303992.4:p.Arg12Lys | |
| ENST00000432444.1:c.*65G>A | ENSP00000395617.1:n.*65G>A | |
| NM_024334.2:c.35G>A , LRG_435t1:c.35G>A | NP_077310.1:p.Arg12Lys | |
| XM_011534109.1:c.-71G>A | XP_011532411.1:n.-71G>A | |
| XM_017007176.2:c.-71G>A | XP_016862665.1:n.-71G>A | |
| NM_024334.3:c.35G>A MANE Select | NP_077310.1:p.Arg12Lys |