Linked Data
ClinVar Variation Id:
1102001
ClinVar RCV Id:
RCV001425129
dbSNP Id:
rs782673868
ExAC:
X:148564394 A / T
gnomAD v2:
X-148564394-A-T
gnomAD v3:
X-149482863-A-T
gnomAD v4:
X-149482863-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482863A>T , CM000685.2:g.149482863A>T | GRCh38 |
| NC_000023.10:g.148564394A>T , CM000685.1:g.148564394A>T | GRCh37 |
| NC_000023.9:g.148372299A>T | NCBI36 |
| NG_011900.3:g.27472T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1536T>A MANE Select | ENSP00000339801.6:p.Ala512= | |
| ENST00000651111.1:c.903T>A | ENSP00000498395.1:p.Ala301= | |
| ENST00000340855.10:c.1536T>A | ENSP00000339801.6:p.Ala512= | |
| ENST00000422081.6:c.903T>A | ENSP00000477056.1:p.Ala301= | |
| NM_000202.6:c.1536T>A | NP_000193.1:p.Ala512= | |
| NM_001166550.2:c.1266T>A | NP_001160022.1:p.Ala422= | |
| NM_000202.7:c.1536T>A | NP_000193.1:p.Ala512= | |
| NM_001166550.3:c.1266T>A | NP_001160022.1:p.Ala422= | |
| NM_000202.8:c.1536T>A MANE Select | NP_000193.1:p.Ala512= | |
| NM_001166550.4:c.1266T>A | NP_001160022.1:p.Ala422= |