Linked Data
ClinVar Variation Id:
434664
dbSNP Id:
rs781427744
ExAC:
X:18622608 T / G
gnomAD v2:
X-18622608-T-G
gnomAD v3:
X-18604488-T-G
gnomAD v4:
X-18604488-T-G
ERepo:
CA10360394/MONDO:0100039/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604488T>G , CM000685.2:g.18604488T>G | GRCh38 |
| NC_000023.10:g.18622608T>G , CM000685.1:g.18622608T>G | GRCh37 |
| NC_000023.9:g.18532529T>G | NCBI36 |
| NG_008475.1:g.183884T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1564T>G MANE Select | ENSP00000485244.1:p.Leu522Val | |
| ENST00000635828.1:c.1564T>G | ENSP00000490170.1:p.Leu522Val | |
| ENST00000674046.1:c.1564T>G | ENSP00000501174.1:p.Leu522Val | |
| ENST00000379989.6:c.1564T>G | ENSP00000369325.3:p.Leu522Val | |
| ENST00000379996.7:c.1564T>G | ENSP00000369332.3:p.Leu522Val | |
| ENST00000463994.4:c.1564T>G | ENSP00000485184.1:p.Leu522Val | |
| ENST00000623535.1:c.1564T>G | ENSP00000485244.1:p.Leu522Val | |
| NM_001037343.1:c.1564T>G | NP_001032420.1:p.Leu522Val | |
| NM_003159.2:c.1564T>G | NP_003150.1:p.Leu522Val | |
| XM_011545569.1:c.1513T>G | XP_011543871.1:p.Leu505Val | |
| XM_011545570.1:c.1432T>G | XP_011543872.1:p.Leu478Val | |
| XR_950484.1:n.1816T>G | ||
| NM_001323289.1:c.1564T>G | NP_001310218.1:p.Leu522Val | |
| NM_001323289.2:c.1564T>G MANE Select | NP_001310218.1:p.Leu522Val | |
| NM_001037343.2:c.1564T>G | NP_001032420.1:p.Leu522Val | |
| NM_003159.3:c.1564T>G | NP_003150.1:p.Leu522Val |