Linked Data
ClinVar Variation Id:
297931
ClinVar RCV Id:
RCV000326556
dbSNP Id:
rs886046496
gnomAD v2:
1-6527555-G-A
gnomAD v3:
1-6467495-G-A
gnomAD v4:
1-6467495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6467495G>A , CM000663.2:g.6467495G>A | GRCh38 |
| NC_000001.10:g.6527555G>A , CM000663.1:g.6527555G>A | GRCh37 |
| NC_000001.9:g.6450142G>A | NCBI36 |
| NG_007978.1:g.57515C>T , LRG_262:g.57515C>T | |
| NG_029910.1:g.3701C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.10:c.*68C>T | ENSP00000344570.5:n.*68C>T | |
| ENST00000377728.8:c.*68C>T MANE Select | ENSP00000366957.3:n.*68C>T | |
| ENST00000377740.5:c.*68C>T | ENSP00000366969.4:n.*68C>T | |
| ENST00000377748.6:c.*68C>T | ENSP00000366977.2:n.*68C>T | |
| ENST00000400913.6:c.*68C>T | ENSP00000383704.1:n.*68C>T | |
| ENST00000400915.8:c.*68C>T | ENSP00000383706.4:n.*68C>T | |
| ENST00000489097.6:n.3565C>T | ||
| ENST00000535355.6:c.*68C>T | ENSP00000441445.1:n.*68C>T | |
| ENST00000673471.2:c.3386C>T | ENSP00000500749.1:n.3386C>T | |
| ENST00000674790.1:c.*3301C>T | ENSP00000502815.1:n.*3301C>T | |
| ENST00000675123.1:c.*68C>T | ENSP00000502132.1:n.*68C>T | |
| ENST00000675548.1:c.*2917C>T | ENSP00000502684.1:n.*2917C>T | |
| ENST00000675694.1:c.*68C>T | ENSP00000501925.1:n.*68C>T | |
| ENST00000340850.9:c.*68C>T | ENSP00000344570.5:n.*68C>T | |
| ENST00000377725.5:c.*96C>T | ENSP00000366954.1:n.*96C>T | |
| ENST00000377728.7:c.*68C>T | ENSP00000366957.3:n.*68C>T | |
| ENST00000377732.5:c.*68C>T | ENSP00000366961.1:n.*68C>T | |
| ENST00000377740.4:c.*68C>T | ENSP00000366969.3:n.*68C>T | |
| ENST00000377748.5:c.*68C>T | ENSP00000366977.1:n.*68C>T | |
| ENST00000400913.5:c.*68C>T | ENSP00000383704.1:n.*68C>T | |
| ENST00000400915.7:c.*68C>T | ENSP00000383706.3:n.*68C>T | |
| ENST00000487949.4:n.2291C>T | ||
| ENST00000489097.5:n.3565C>T | ||
| ENST00000535355.5:c.*68C>T | ENSP00000441445.1:n.*68C>T | |
| ENST00000537245.5:c.*68C>T | ENSP00000439625.1:n.*68C>T | |
| NM_001042663.1:c.*68C>T | NP_001036128.1:n.*68C>T | |
| NM_001042664.1:c.*68C>T | NP_001036129.1:n.*68C>T | |
| NM_001042665.1:c.*68C>T | NP_001036130.1:n.*68C>T | |
| NM_001265592.1:c.*68C>T | NP_001252521.1:n.*68C>T | |
| NM_001265593.1:c.*68C>T | NP_001252522.1:n.*68C>T | |
| NM_001265594.1:c.*96C>T | NP_001252523.1:n.*96C>T | |
| NM_020631.4:c.*68C>T | NP_065682.2:n.*68C>T | |
| NM_198681.3:c.*68C>T | NP_941374.2:n.*68C>T | |
| NM_001042663.2:c.*68C>T | NP_001036128.1:n.*68C>T | |
| NM_001265594.2:c.*96C>T | NP_001252523.1:n.*96C>T | |
| NM_020631.5:c.*68C>T | NP_065682.2:n.*68C>T | |
| NM_001042663.3:c.*68C>T | NP_001036128.2:n.*68C>T | |
| NM_001265592.2:c.*68C>T | NP_001252521.2:n.*68C>T | |
| NM_020631.6:c.*68C>T MANE Select | NP_065682.2:n.*68C>T | |
| NM_198681.4:c.*68C>T | NP_941374.3:n.*68C>T |