Linked Data
ClinVar Variation Id:
3213391
ClinVar RCV Id:
RCV004506294
dbSNP Id:
rs766207691
ExAC:
X:68381320 C / T
gnomAD v2:
X-68381320-C-T
gnomAD v3:
X-69161477-C-T
gnomAD v4:
X-69161477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69161477C>T , CM000685.2:g.69161477C>T | GRCh38 |
| NC_000023.10:g.68381320C>T , CM000685.1:g.68381320C>T | GRCh37 |
| NC_000023.9:g.68298045C>T | NCBI36 |
| NG_021258.1:g.9046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374571.5:c.1597G>A MANE Select | ENSP00000363699.3:p.Ala533Thr | |
| ENST00000361478.1:c.1762G>A | ENSP00000355014.1:p.Ala588Thr | |
| ENST00000374571.4:c.1597G>A | ENSP00000363699.3:p.Ala533Thr | |
| ENST00000374583.1:c.1762G>A | ENSP00000363711.1:p.Ala588Thr | |
| ENST00000374584.3:c.1198G>A | ENSP00000363712.3:p.Ala400Thr | |
| ENST00000471141.1:c.151-233G>A | ||
| NM_001032396.2:c.1597G>A | NP_001027568.1:p.Ala533Thr | |
| NM_022368.4:c.1198G>A | NP_071763.2:p.Ala400Thr | |
| NM_145119.3:c.1762G>A | NP_660095.1:p.Ala588Thr | |
| XM_005262292.1:c.1597G>A | XP_005262349.1:p.Ala533Thr | |
| XM_011531011.1:c.1762G>A | XP_011529313.1:p.Ala588Thr | |
| XM_011531011.2:c.1762G>A | XP_011529313.1:p.Ala588Thr | |
| NM_001032396.3:c.1597G>A | NP_001027568.1:p.Ala533Thr | |
| NM_022368.5:c.1198G>A | NP_071763.2:p.Ala400Thr | |
| NM_145119.4:c.1762G>A | NP_660095.1:p.Ala588Thr | |
| NM_001032396.4:c.1597G>A MANE Select | NP_001027568.1:p.Ala533Thr | |
| NM_001382775.1:c.1762G>A | NP_001369704.1:p.Ala588Thr | |
| NM_001382776.1:c.1597G>A | NP_001369705.1:p.Ala533Thr |