Linked Data
ClinVar Variation Id:
213627
dbSNP Id:
rs372606012
ExAC:
X:70360537 A / G
gnomAD v2:
X-70360537-A-G
gnomAD v3:
X-71140687-A-G
gnomAD v4:
X-71140687-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71140687A>G , CM000685.2:g.71140687A>G | GRCh38 |
| NC_000023.10:g.70360537A>G , CM000685.1:g.70360537A>G | GRCh37 |
| NC_000023.9:g.70277262A>G | NCBI36 |
| NG_012808.1:g.27132A>G | |
| NG_015874.1:g.857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.5977A>G | ENSP00000333125.8:p.Met1993Val | |
| ENST00000374102.6:c.6106A>G | ENSP00000363215.2:p.Met2036Val | |
| ENST00000444034.2:c.1072A>G | ENSP00000404373.2:p.Met358Val | |
| ENST00000685182.1:n.2795A>G | ||
| ENST00000686169.1:n.2483A>G | ||
| ENST00000686548.1:c.*6002A>G | ENSP00000509582.1:n.*6002A>G | |
| ENST00000687161.1:n.2812A>G | ||
| ENST00000687382.1:c.6022A>G | ENSP00000510724.1:p.Met2008Val | |
| ENST00000687701.1:n.2856A>G | ||
| ENST00000687973.1:n.770A>G | ||
| ENST00000688079.1:n.4092A>G | ||
| ENST00000688231.1:c.141A>G | ||
| ENST00000688508.1:n.1657A>G | ||
| ENST00000688663.1:c.*3018A>G | ENSP00000509348.1:n.*3018A>G | |
| ENST00000688774.1:c.875A>G | ENSP00000508823.1:p.Asn292Ser | |
| ENST00000688881.1:n.2760A>G | ||
| ENST00000688993.1:n.2477A>G | ||
| ENST00000689489.1:n.416A>G | ||
| ENST00000689768.1:n.4716A>G | ||
| ENST00000690145.1:c.6103A>G | ENSP00000508818.1:p.Met2035Val | |
| ENST00000690242.1:c.6031A>G | ENSP00000510090.1:p.Met2011Val | |
| ENST00000690250.1:n.3700A>G | ||
| ENST00000690523.1:n.2207A>G | ||
| ENST00000690807.1:c.873A>G | ENSP00000510476.1:n.873A>G | |
| ENST00000690878.1:c.128A>G | ||
| ENST00000691113.1:c.4576A>G | ENSP00000509755.1:n.4576A>G | |
| ENST00000691426.1:n.5396A>G | ||
| ENST00000691909.1:n.2817A>G | ||
| ENST00000692304.1:c.6094A>G | ENSP00000508427.1:p.Met2032Val | |
| ENST00000692893.1:n.3415A>G | ||
| ENST00000692964.1:n.2940A>G | ||
| ENST00000693391.1:c.4051A>G | ENSP00000509563.1:p.Met1351Val | |
| ENST00000374080.8:c.6097A>G MANE Select | ENSP00000363193.3:p.Met2033Val | |
| ENST00000333646.10:c.5647A>G | ENSP00000333125.7:p.Met1883Val | |
| ENST00000374080.7:c.6097A>G | ENSP00000363193.3:p.Met2033Val | |
| ENST00000374102.5:c.6094A>G | ENSP00000363215.1:p.Met2032Val | |
| ENST00000444034.1:c.684A>G | ||
| NM_005120.2:c.6097A>G | NP_005111.2:p.Met2033Val | |
| XM_005262317.1:c.6106A>G | XP_005262374.1:p.Met2036Val | |
| XM_005262319.1:c.6031A>G | XP_005262376.1:p.Met2011Val | |
| NM_005120.3:c.6097A>G MANE Select | NP_005111.2:p.Met2033Val |