Linked Data
ClinVar Variation Id:
468731
ClinVar RCV Id:
RCV001443966
dbSNP Id:
rs61749716
ExAC:
X:153296688 C / G
gnomAD v2:
X-153296688-C-G
gnomAD v3:
X-154031237-C-G
gnomAD v4:
X-154031237-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031237C>G , CM000685.2:g.154031237C>G | GRCh38 |
| NC_000023.10:g.153296688C>G , CM000685.1:g.153296688C>G | GRCh37 |
| NC_000023.9:g.152949882C>G | NCBI36 |
| NG_007107.2:g.110891G>C | |
| NG_007107.3:g.110867G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.591G>C MANE Plus Clinical | ENSP00000301948.6:p.Thr197= | |
| ENST00000453960.7:c.627G>C MANE Select | ENSP00000395535.2:p.Thr209= | |
| ENST00000637917.1:c.65+159G>C | ||
| ENST00000303391.10:c.591G>C | ENSP00000301948.6:p.Thr197= | |
| ENST00000407218.5:c.518G>C | ENSP00000384865.2:p.Arg173Pro | |
| ENST00000453960.6:c.627G>C | ENSP00000395535.2:p.Thr209= | |
| ENST00000619732.4:c.591G>C | ENSP00000480973.1:p.Thr197= | |
| ENST00000622433.4:c.579G>C | ENSP00000484470.1:p.Thr193= | |
| ENST00000628176.2:c.482G>C | ENSP00000486978.1:p.Arg161Pro | |
| NM_001110792.1:c.627G>C | NP_001104262.1:p.Thr209= | |
| NM_001316337.1:c.312G>C | NP_001303266.1:p.Thr104= | |
| NM_004992.3:c.591G>C | NP_004983.1:p.Thr197= | |
| XM_005274681.3:c.591G>C | XP_005274738.1:p.Thr197= | |
| XM_005274682.3:c.312G>C | XP_005274739.1:p.Thr104= | |
| XM_005274683.3:c.312G>C | XP_005274740.1:p.Thr104= | |
| XM_006724819.2:c.-79G>C | XP_006724882.1:n.-79G>C | |
| XM_011531166.1:c.312G>C | XP_011529468.1:p.Thr104= | |
| XM_006724819.3:c.-79G>C | XP_006724882.1:n.-79G>C | |
| XM_011531166.2:c.312G>C | XP_011529468.1:p.Thr104= | |
| XM_024452383.1:c.312G>C | XP_024308151.1:p.Thr104= | |
| XM_024452384.1:c.312G>C | XP_024308152.1:p.Thr104= | |
| NM_001110792.2:c.627G>C MANE Select | NP_001104262.1:p.Thr209= | |
| NM_001316337.2:c.312G>C | NP_001303266.1:p.Thr104= | |
| NM_001369391.2:c.312G>C | NP_001356320.1:p.Thr104= | |
| NM_001369392.2:c.312G>C | NP_001356321.1:p.Thr104= | |
| NM_001369393.2:c.312G>C | NP_001356322.1:p.Thr104= | |
| NM_001369394.1:c.312G>C | NP_001356323.1:p.Thr104= | |
| NM_001369394.2:c.312G>C | NP_001356323.1:p.Thr104= | |
| NM_001386137.1:c.-79G>C | NP_001373066.1:n.-79G>C | |
| NM_001386138.1:c.-79G>C | NP_001373067.1:n.-79G>C | |
| NM_001386139.1:c.-79G>C | NP_001373068.1:n.-79G>C | |
| NM_004992.4:c.591G>C MANE Plus Clinical | NP_004983.1:p.Thr197= |