Linked Data
ClinVar Variation Id:
391178
dbSNP Id:
rs1057523997
gnomAD v2:
X-135292082-C-T
gnomAD v3:
X-136209923-C-T
gnomAD v4:
X-136209923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136209923C>T , CM000685.2:g.136209923C>T | GRCh38 |
| NC_000023.10:g.135292082C>T , CM000685.1:g.135292082C>T | GRCh37 |
| NC_000023.9:g.135119748C>T | NCBI36 |
| NG_015895.1:g.67524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370683.6:c.789C>T MANE Select | ENSP00000359717.1:p.Asp263= | |
| ENST00000394155.8:c.941C>T MANE Plus Clinical | ENSP00000377710.2:p.Thr314Ile | |
| ENST00000628919.3:c.741C>T | ENSP00000487147.2:p.Asp247= | |
| ENST00000651089.1:c.941C>T | ENSP00000498684.1:p.Thr314Ile | |
| ENST00000651929.2:c.741C>T | ENSP00000499016.1:p.Asp247= | |
| ENST00000652457.1:c.*70C>T | ENSP00000498503.1:n.*70C>T | |
| ENST00000345434.7:c.941C>T | ENSP00000071281.6:p.Thr314Ile | |
| ENST00000370674.3:c.741C>T | ENSP00000359708.1:p.Asp247= | |
| ENST00000370676.7:c.602C>T | ENSP00000359710.3:p.Thr201Ile | |
| ENST00000370683.5:c.789C>T | ENSP00000359717.1:p.Asp263= | |
| ENST00000370690.7:c.741C>T | ENSP00000359724.3:p.Asp247= | |
| ENST00000394153.6:c.741C>T | ENSP00000377709.2:p.Asp247= | |
| ENST00000394155.6:c.941C>T | ENSP00000377710.2:p.Thr314Ile | |
| ENST00000535737.5:c.741C>T | ENSP00000444815.1:p.Asp247= | |
| ENST00000539015.5:c.828C>T | ENSP00000437673.1:p.Asp276= | |
| ENST00000543669.5:c.741C>T | ENSP00000443333.1:p.Asp247= | |
| ENST00000618438.4:c.554C>T | ENSP00000477609.1:p.Thr185Ile | |
| ENST00000628568.1:c.741C>T | ENSP00000486782.1:p.Asp247= | |
| ENST00000629039.2:c.741C>T | ENSP00000486439.1:p.Asp247= | |
| ENST00000630084.2:c.741C>T | ENSP00000485897.1:p.Asp247= | |
| ENST00000630677.1:n.328C>T | ||
| NM_001159699.1:c.789C>T | NP_001153171.1:p.Asp263= | |
| NM_001159700.1:c.741C>T | NP_001153172.1:p.Asp247= | |
| NM_001159701.1:c.828C>T | NP_001153173.1:p.Asp276= | |
| NM_001159702.2:c.941C>T | NP_001153174.1:p.Thr314Ile | |
| NM_001159703.1:c.554C>T | NP_001153175.1:p.Thr185Ile | |
| NM_001159704.1:c.741C>T | NP_001153176.1:p.Asp247= | |
| NM_001167819.1:c.741C>T | NP_001161291.1:p.Asp247= | |
| NM_001449.4:c.741C>T | NP_001440.2:p.Asp247= | |
| NR_027621.1:n.1152C>T | ||
| XM_006724743.2:c.989C>T | XP_006724806.1:p.Thr330Ile | |
| XM_006724744.2:c.941C>T | XP_006724807.1:p.Thr314Ile | |
| XM_006724745.2:c.941C>T | XP_006724808.1:p.Thr314Ile | |
| XM_006724746.2:c.941C>T | XP_006724809.1:p.Thr314Ile | |
| XM_006724747.2:c.741C>T | XP_006724810.1:p.Asp247= | |
| XM_011531316.1:c.602C>T | XP_011529618.1:p.Thr201Ile | |
| NM_001330659.1:c.602C>T | NP_001317588.1:p.Thr201Ile | |
| XM_006724744.3:c.941C>T | XP_006724807.1:p.Thr314Ile | |
| XM_006724745.4:c.941C>T | XP_006724808.1:p.Thr314Ile | |
| XM_006724746.3:c.941C>T | XP_006724809.1:p.Thr314Ile | |
| XM_006724747.3:c.741C>T | XP_006724810.1:p.Asp247= | |
| XM_017029357.2:c.741C>T | XP_016884846.1:p.Asp247= | |
| XM_024452353.1:c.941C>T | XP_024308121.1:p.Thr314Ile | |
| XM_024452354.1:c.941C>T | XP_024308122.1:p.Thr314Ile | |
| XM_024452355.1:c.741C>T | XP_024308123.1:p.Asp247= | |
| NM_001449.5:c.741C>T | NP_001440.2:p.Asp247= | |
| NM_001159699.2:c.789C>T MANE Select | NP_001153171.1:p.Asp263= | |
| NM_001159700.2:c.741C>T | NP_001153172.1:p.Asp247= | |
| NM_001159701.2:c.828C>T | NP_001153173.1:p.Asp276= | |
| NM_001159702.3:c.941C>T MANE Plus Clinical | NP_001153174.1:p.Thr314Ile | |
| NM_001159703.2:c.554C>T | NP_001153175.1:p.Thr185Ile | |
| NM_001330659.2:c.602C>T | NP_001317588.1:p.Thr201Ile | |
| NM_001369326.1:c.941C>T | NP_001356255.1:p.Thr314Ile | |
| NM_001369327.1:c.941C>T | NP_001356256.1:p.Thr314Ile | |
| NM_001369328.1:c.941C>T | NP_001356257.1:p.Thr314Ile | |
| NM_001369329.1:c.741C>T | NP_001356258.1:p.Asp247= | |
| NM_001369330.1:c.741C>T | NP_001356259.1:p.Asp247= | |
| NM_001369331.1:c.741C>T | NP_001356260.1:p.Asp247= | |
| NM_001369327.2:c.941C>T | NP_001356256.1:p.Thr314Ile | |
| NR_027621.2:n.1152C>T |