Linked Data
ClinVar Variation Id:
325039
ClinVar RCV Id:
RCV000302300
dbSNP Id:
rs182142592
gnomAD v2:
17-72913046-C-T
gnomAD v3:
17-74916954-C-T
gnomAD v4:
17-74916954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74916954C>T , CM000679.2:g.74916954C>T | GRCh38 |
| NC_000017.10:g.72913046C>T , CM000679.1:g.72913046C>T | GRCh37 |
| NC_000017.9:g.70424641C>T | NCBI36 |
| NG_007882.1:g.11306G>A | |
| NG_007882.2:g.11310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*1119G>A MANE Select | ENSP00000480279.1:n.*1119G>A | |
| ENST00000614341.4:c.*1119G>A | ENSP00000480279.1:n.*1119G>A | |
| NM_001282489.2:c.*1119G>A | NP_001269418.1:n.*1119G>A | |
| NM_173477.4:c.*1119G>A | NP_775748.2:n.*1119G>A | |
| XM_011524296.1:c.*1119G>A | XP_011522598.1:n.*1119G>A | |
| XM_011524296.2:c.*1119G>A | XP_011522598.1:n.*1119G>A | |
| NM_173477.5:c.*1119G>A MANE Select | NP_775748.2:n.*1119G>A | |
| NM_001282489.3:c.*1119G>A | NP_001269418.1:n.*1119G>A |