Linked Data
ClinVar Variation Id:
367982
ClinVar RCV Id:
RCV000345984
dbSNP Id:
rs1057515791
gnomAD v2:
X-13731774-T-C
gnomAD v3:
X-13713655-T-C
gnomAD v4:
X-13713655-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13713655T>C , CM000685.2:g.13713655T>C | GRCh38 |
| NC_000023.10:g.13731774T>C , CM000685.1:g.13731774T>C | GRCh37 |
| NC_000023.9:g.13641695T>C | NCBI36 |
| NG_011555.1:g.25969A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683569.1:c.*752A>G | ENSP00000508155.1:n.*752A>G | |
| ENST00000683983.1:c.*752A>G | ENSP00000507474.1:n.*752A>G | |
| ENST00000380579.6:c.*752A>G MANE Select | ENSP00000369953.1:n.*752A>G | |
| ENST00000359680.9:c.*752A>G | ENSP00000352708.5:n.*752A>G | |
| ENST00000380579.5:c.*752A>G | ENSP00000369953.1:n.*752A>G | |
| NM_001011658.3:c.*752A>G | NP_001011658.1:n.*752A>G | |
| NM_001128835.2:c.*752A>G | NP_001122307.2:n.*752A>G | |
| NM_014563.5:c.*752A>G | NP_055378.1:n.*752A>G | |
| XM_011545565.1:c.*752A>G | XP_011543867.1:n.*752A>G | |
| XM_011545566.1:c.*752A>G | XP_011543868.1:n.*752A>G | |
| XM_011545566.2:c.*752A>G | XP_011543868.1:n.*752A>G | |
| NM_001011658.4:c.*752A>G MANE Select | NP_001011658.1:n.*752A>G | |
| NM_001128835.3:c.*752A>G | NP_001122307.2:n.*752A>G | |
| NM_014563.6:c.*752A>G | NP_055378.1:n.*752A>G |