Linked Data
ClinVar Variation Id:
3091487
ClinVar RCV Id:
RCV004385873
dbSNP Id:
rs782241116
ExAC:
X:154182265 C / T
gnomAD v2:
X-154182265-C-T
gnomAD v3:
X-154953990-C-T
gnomAD v4:
X-154953990-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953990C>T , CM000685.2:g.154953990C>T | GRCh38 |
| NC_000023.10:g.154182265C>T , CM000685.1:g.154182265C>T | GRCh37 |
| NC_000023.9:g.153835459C>T | NCBI36 |
| NG_011403.1:g.73734G>A | |
| NG_011403.2:g.73734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1805G>A MANE Select | ENSP00000353393.4:p.Arg602Gln | |
| ENST00000647125.1:c.*1681G>A | ENSP00000496062.1:n.*1681G>A | |
| ENST00000360256.8:c.1805G>A | ENSP00000353393.4:p.Arg602Gln | |
| NM_000132.3:c.1805G>A | NP_000123.1:p.Arg602Gln | |
| XM_011531126.1:c.1700G>A | XP_011529428.1:p.Arg567Gln | |
| NM_000132.4:c.1805G>A MANE Select | NP_000123.1:p.Arg602Gln |