Linked Data
dbSNP Id:
rs762643297
ExAC:
X:1471083 C / T
gnomAD v2:
X-1471083-C-T
gnomAD v4:
X-1352190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.1352190C>T , CM000685.2:g.1352190C>T | GRCh38 |
| NC_000023.10:g.1471083C>T , CM000685.1:g.1471083C>T | GRCh37 |
| NC_000023.9:g.1431083C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331035.10:c.389C>T MANE Select | ENSP00000327890.4:p.Ala130Val | |
| ENST00000331035.9:c.389C>T | ENSP00000327890.4:p.Ala130Val | |
| ENST00000381469.7:c.155C>T | ENSP00000370878.2:p.Ala52Val | |
| ENST00000432757.6:c.155C>T | ENSP00000414867.1:p.Ala52Val | |
| XM_005274431.3:c.389C>T | XP_005274488.1:p.Ala130Val | |
| XM_005274432.1:c.389C>T | XP_005274489.1:p.Ala130Val | |
| XR_247285.3:n.870+120G>A | ||
| XR_430488.2:n.1194+120G>A | ||
| XR_430490.2:n.869+120G>A | ||
| XR_951269.1:n.1398+120G>A | ||
| XR_951270.1:n.1415+120G>A | ||
| XR_951271.1:n.1466+120G>A | ||
| XR_951272.1:n.1402+120G>A | ||
| XR_951273.1:n.1329+120G>A | ||
| XR_951274.1:n.1333+120G>A | ||
| XR_951276.1:n.1346+120G>A | ||
| XR_951277.1:n.1398+120G>A | ||
| XR_951278.1:n.1398+120G>A | ||
| XR_951279.1:n.1398+120G>A | ||
| XR_951280.1:n.1398+120G>A | ||
| XR_951281.1:n.1398+120G>A | ||
| XR_951282.1:n.1243+120G>A | ||
| XR_951283.1:n.872+120G>A | ||
| XM_005274431.5:c.389C>T | XP_005274488.1:p.Ala130Val | |
| XM_017029491.2:c.389C>T | XP_016884980.1:p.Ala130Val | |
| XR_001755748.1:n.1189+120G>A | ||
| XR_001755751.1:n.1189+120G>A | ||
| XR_001755752.1:n.1189+120G>A | ||
| XR_001755754.1:n.1189+120G>A |