Linked Data
ClinVar Variation Id:
350085
ClinVar RCV Id:
RCV000405545
dbSNP Id:
rs377356638
gnomAD v2:
4-90646492-C-T
gnomAD v3:
4-89725341-C-T
gnomAD v4:
4-89725341-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89725341C>T , CM000666.2:g.89725341C>T | GRCh38 |
| NC_000004.11:g.90646492C>T , CM000666.1:g.90646492C>T | GRCh37 |
| NC_000004.10:g.90865515C>T | NCBI36 |
| NG_011851.1:g.117956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394991.8:c.*1287G>A MANE Select | ENSP00000378442.4:n.*1287G>A | |
| ENST00000673718.1:c.*1287G>A | ENSP00000500990.1:n.*1287G>A | |
| ENST00000673766.1:n.1965G>A | ||
| ENST00000673902.1:c.390+3853G>A | ENSP00000501102.1:n.390+3853G>A | |
| ENST00000336904.7:c.*1287G>A | ENSP00000338345.3:n.*1287G>A | |
| ENST00000394989.6:c.*1287G>A | ENSP00000378440.2:n.*1287G>A | |
| ENST00000420646.6:c.*1287G>A | ENSP00000396241.2:n.*1287G>A | |
| ENST00000618500.4:c.*1287G>A | ENSP00000484044.1:n.*1287G>A | |
| NM_000345.3:c.*1287G>A | NP_000336.1:n.*1287G>A | |
| NM_001146054.1:c.*1287G>A | NP_001139526.1:n.*1287G>A | |
| NM_001146055.1:c.*1287G>A | NP_001139527.1:n.*1287G>A | |
| NM_007308.2:c.*1287G>A | NP_009292.1:n.*1287G>A | |
| NM_000345.4:c.*1287G>A MANE Select | NP_000336.1:n.*1287G>A | |
| NM_001146054.2:c.*1287G>A | NP_001139526.1:n.*1287G>A | |
| NM_001146055.2:c.*1287G>A | NP_001139527.1:n.*1287G>A | |
| NM_001375285.1:c.*1287G>A | NP_001362214.1:n.*1287G>A | |
| NM_001375286.1:c.*1287G>A | NP_001362215.1:n.*1287G>A | |
| NM_001375287.1:c.*1287G>A | NP_001362216.1:n.*1287G>A | |
| NM_001375288.1:c.*1287G>A | NP_001362217.1:n.*1287G>A | |
| NM_001375290.1:c.*1287G>A | NP_001362219.1:n.*1287G>A | |
| NR_164674.1:n.1277-27G>A | ||
| NR_164675.1:n.1424-27G>A | ||
| NR_164676.1:n.2008G>A | ||
| NM_007308.3:c.*1287G>A | NP_009292.1:n.*1287G>A |