Linked Data
ClinVar Variation Id:
1139415
ClinVar RCV Id:
RCV001476130
dbSNP Id:
rs782748288
ExAC:
X:37642754 A / G
gnomAD v2:
X-37642754-A-G
gnomAD v3:
X-37783501-A-G
gnomAD v4:
X-37783501-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783501A>G , CM000685.2:g.37783501A>G | GRCh38 |
| NC_000023.10:g.37642754A>G , CM000685.1:g.37642754A>G | GRCh37 |
| NC_000023.9:g.37527698A>G | NCBI36 |
| NG_009065.1:g.8485A>G , LRG_53:g.8485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.153A>G | ENSP00000512461.1:p.Ala51= | |
| ENST00000696171.1:c.57A>G | ENSP00000512462.1:p.Ala19= | |
| ENST00000696172.1:c.153A>G | ENSP00000512463.1:p.Ala51= | |
| ENST00000696173.1:n.161A>G | ||
| ENST00000378588.5:c.153A>G MANE Select | ENSP00000367851.4:p.Ala51= | |
| ENST00000378588.4:c.153A>G | ENSP00000367851.4:p.Ala51= | |
| ENST00000465127.1:c.171+357501A>G | ENSP00000417050.1:n.171+357501A>G | |
| NM_000397.3:c.153A>G , LRG_53t1:c.153A>G | NP_000388.2:p.Ala51= | |
| XM_011543890.1:c.-278A>G | XP_011542192.1:n.-278A>G | |
| NM_000397.4:c.153A>G MANE Select | NP_000388.2:p.Ala51= |