Linked Data
ClinVar Variation Id:
357085
ClinVar RCV Id:
RCV000301965
dbSNP Id:
rs535015975
ExAC:
6:45296144 T / C
gnomAD v2:
6-45296144-T-C
gnomAD v3:
6-45328407-T-C
gnomAD v4:
6-45328407-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45328407T>C , CM000668.2:g.45328407T>C | GRCh38 |
| NC_000006.11:g.45296144T>C , CM000668.1:g.45296144T>C | GRCh37 |
| NC_000006.10:g.45404122T>C | NCBI36 |
| NG_008020.1:g.5091T>C | |
| NG_008020.2:g.5091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371459.6:c.101+36794A>G (SUPT3H) MANE Select | ENSP00000360514.1:n.101+36794A>G | |
| ENST00000647337.2:c.-120T>C (RUNX2) MANE Select | ENSP00000495497.1:n.-120T>C | |
| ENST00000371432.7:c.-120T>C (RUNX2) | ENSP00000360486.4:n.-120T>C | |
| ENST00000371438.5:c.-320T>C (RUNX2) | ENSP00000360493.1:n.-320T>C | |
| ENST00000371459.5:c.101+36794A>G (SUPT3H) | ENSP00000360514.1:n.101+36794A>G | |
| ENST00000371460.5:c.-51-5440A>G (SUPT3H) | ENSP00000360515.1:n.-51-5440A>G | |
| ENST00000459689.1:n.214+36794A>G (SUPT3H) | ||
| ENST00000465038.6:c.-120T>C (RUNX2) | ENSP00000420707.2:n.-120T>C | |
| ENST00000475057.5:c.101+36794A>G (SUPT3H) | ENSP00000436411.1:n.101+36794A>G | |
| ENST00000483243.5:n.85T>C (RUNX2) | ||
| ENST00000483377.5:c.-120T>C (RUNX2) | ENSP00000461357.1:n.-120T>C | |
| NM_001015051.3:c.-120T>C (RUNX2) | NP_001015051.3:n.-120T>C | |
| NM_001024630.3:c.-120T>C (RUNX2) | NP_001019801.3:n.-120T>C | |
| NM_001261823.1:c.-265+36794A>G (SUPT3H) | NP_001248752.1:n.-265+36794A>G | |
| NM_003599.3:c.101+36794A>G (SUPT3H) | NP_003590.1:n.101+36794A>G | |
| NM_181356.2:c.-51-5440A>G (SUPT3H) | NP_852001.1:n.-51-5440A>G | |
| NR_103532.1:n.91T>C (RUNX2) | ||
| NR_103533.1:n.91T>C (RUNX2) | ||
| XM_011514949.1:c.-51-5440A>G (SUPT3H) | XP_011513251.1:n.-51-5440A>G | |
| XM_011514950.1:c.101+36794A>G (SUPT3H) | XP_011513252.1:n.101+36794A>G | |
| XM_011514951.1:c.101+36794A>G (SUPT3H) | XP_011513253.1:n.101+36794A>G | |
| XM_011514952.1:c.101+36794A>G (SUPT3H) | XP_011513254.1:n.101+36794A>G | |
| XM_011514953.1:c.101+36794A>G (SUPT3H) | XP_011513255.1:n.101+36794A>G | |
| XM_011514954.1:c.101+36794A>G (SUPT3H) | XP_011513256.1:n.101+36794A>G | |
| XM_011514960.1:c.85T>C (RUNX2) | XP_011513262.1:p.Phe29Leu | |
| XM_011514961.1:c.85T>C (RUNX2) | XP_011513263.1:p.Phe29Leu | |
| XM_011514962.1:c.85T>C (RUNX2) | XP_011513264.1:p.Phe29Leu | |
| XM_011514963.1:c.85T>C (RUNX2) | XP_011513265.1:p.Phe29Leu | |
| XM_011514964.1:c.85T>C (RUNX2) | XP_011513266.1:p.Phe29Leu | |
| XM_011514965.1:c.85T>C (RUNX2) | XP_011513267.1:p.Phe29Leu | |
| XM_011514967.1:c.85T>C (RUNX2) | XP_011513269.1:p.Phe29Leu | |
| XM_011514968.1:c.85T>C (RUNX2) | XP_011513270.1:p.Phe29Leu | |
| XR_926323.1:n.597T>C (RUNX2) | ||
| NM_001350324.1:c.101+36794A>G (SUPT3H) | NP_001337253.1:n.101+36794A>G | |
| NM_001350325.1:c.101+36794A>G (SUPT3H) | NP_001337254.1:n.101+36794A>G | |
| NM_001350326.1:c.-51-5440A>G (SUPT3H) | NP_001337255.1:n.-51-5440A>G | |
| NM_001350327.1:c.-73+36794A>G (SUPT3H) | NP_001337256.1:n.-73+36794A>G | |
| NM_001350329.1:c.101+36794A>G (SUPT3H) | NP_001337258.1:n.101+36794A>G | |
| NR_146632.1:n.198+36794A>G (SUPT3H) | ||
| NR_146633.1:n.260+36794A>G (SUPT3H) | ||
| NR_146634.1:n.218+36794A>G (SUPT3H) | ||
| NR_146635.1:n.116+36794A>G (SUPT3H) | ||
| XM_011514949.3:c.-51-5440A>G (SUPT3H) | XP_011513251.1:n.-51-5440A>G | |
| XM_011514951.3:c.101+36794A>G (SUPT3H) | XP_011513253.1:n.101+36794A>G | |
| XM_011514952.2:c.101+36794A>G (SUPT3H) | XP_011513254.1:n.101+36794A>G | |
| XM_011514953.3:c.101+36794A>G (SUPT3H) | XP_011513255.1:n.101+36794A>G | |
| XM_011514954.3:c.101+36794A>G (SUPT3H) | XP_011513256.1:n.101+36794A>G | |
| XM_017011369.2:c.-51-5440A>G (SUPT3H) | XP_016866858.1:n.-51-5440A>G | |
| XM_017011371.1:c.101+36794A>G (SUPT3H) | XP_016866860.1:n.101+36794A>G | |
| XM_024446572.1:c.101+36794A>G (SUPT3H) | XP_024302340.1:n.101+36794A>G | |
| XR_001743691.1:n.385+36794A>G (SUPT3H) | ||
| XR_001743692.1:n.385+36794A>G (SUPT3H) | ||
| XR_002956310.1:n.385+36794A>G (SUPT3H) | ||
| NM_001024630.4:c.-120T>C (RUNX2) MANE Select | NP_001019801.3:n.-120T>C | |
| NM_003599.4:c.101+36794A>G (SUPT3H) MANE Select | NP_003590.1:n.101+36794A>G | |
| NM_001261823.2:c.-265+36794A>G (SUPT3H) | NP_001248752.1:n.-265+36794A>G | |
| NM_001350324.2:c.101+36794A>G (SUPT3H) | NP_001337253.1:n.101+36794A>G | |
| NM_001350325.2:c.101+36794A>G (SUPT3H) | NP_001337254.1:n.101+36794A>G | |
| NM_001350326.2:c.-51-5440A>G (SUPT3H) | NP_001337255.1:n.-51-5440A>G | |
| NM_001350327.2:c.-73+36794A>G (SUPT3H) | NP_001337256.1:n.-73+36794A>G | |
| NM_001350329.2:c.101+36794A>G (SUPT3H) | NP_001337258.1:n.101+36794A>G | |
| NM_181356.3:c.-51-5440A>G (SUPT3H) | NP_852001.1:n.-51-5440A>G | |
| NR_103532.2:n.78T>C (RUNX2) | ||
| NR_103533.2:n.78T>C (RUNX2) | ||
| NM_001015051.4:c.-120T>C (RUNX2) | NP_001015051.3:n.-120T>C | |
| NR_146632.2:n.268+36794A>G (SUPT3H) | ||
| NR_146634.2:n.260+36794A>G (SUPT3H) | ||
| NR_146635.2:n.260+36794A>G (SUPT3H) |