Linked Data
ClinVar Variation Id:
376916
dbSNP Id:
rs15943
ExAC:
X:19379640 G / C
gnomAD v2:
X-19379640-G-C
gnomAD v3:
X-19361522-G-C
gnomAD v4:
X-19361522-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19361522G>C , CM000685.2:g.19361522G>C | GRCh38 |
| NC_000023.10:g.19379640G>C , CM000685.1:g.19379640G>C | GRCh37 |
| NC_000023.9:g.19289561G>C | NCBI36 |
| NG_016781.1:g.22630G>C | |
| NG_021184.1:g.158740C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.*1869G>C (PDHA1) | ENSP00000348062.6:n.*1869G>C | |
| ENST00000423505.6:c.*1869G>C (PDHA1) | ENSP00000406473.2:n.*1869G>C | |
| ENST00000696704.1:c.*2374G>C (PDHA1) | ENSP00000512823.1:n.*2374G>C | |
| ENST00000696705.1:c.*2497G>C (PDHA1) | ENSP00000512824.1:n.*2497G>C | |
| ENST00000338883.9:c.3751C>G (MAP3K15) MANE Select | ENSP00000345629.4:p.Gln1251Glu | |
| ENST00000422285.7:c.*1869G>C (PDHA1) MANE Select | ENSP00000394382.2:n.*1869G>C | |
| ENST00000338883.8:c.3751C>G (MAP3K15) | ENSP00000345629.4:p.Gln1251Glu | |
| ENST00000359173.7:c.3079C>G (MAP3K15) | ||
| ENST00000379806.9:c.*1869G>C (PDHA1) | ENSP00000369134.5:n.*1869G>C | |
| ENST00000422285.6:c.*1869G>C (PDHA1) | ENSP00000394382.2:n.*1869G>C | |
| ENST00000470101.1:n.1169C>G (MAP3K15) | ||
| ENST00000518578.5:n.3813C>G (MAP3K15) | ||
| ENST00000540249.5:c.*1869G>C (PDHA1) | ENSP00000440761.1:n.*1869G>C | |
| ENST00000545074.5:c.*1869G>C (PDHA1) | ENSP00000438550.1:n.*1869G>C | |
| NM_000284.3:c.*1869G>C (PDHA1) | NP_000275.1:n.*1869G>C | |
| NM_001001671.3:c.3751C>G (MAP3K15) | NP_001001671.3:p.Gln1251Glu | |
| NM_001173454.1:c.*1869G>C (PDHA1) | NP_001166925.1:n.*1869G>C | |
| NM_001173455.1:c.*1869G>C (PDHA1) | NP_001166926.1:n.*1869G>C | |
| NM_001173456.1:c.*1869G>C (PDHA1) | NP_001166927.1:n.*1869G>C | |
| XM_011545507.1:c.3406C>G (MAP3K15) | XP_011543809.1:p.Gln1136Glu | |
| XM_011545508.1:c.3319C>G (MAP3K15) | XP_011543810.1:p.Gln1107Glu | |
| XM_011545509.1:c.2716C>G (MAP3K15) | XP_011543811.1:p.Gln906Glu | |
| XM_011545510.1:c.2425C>G (MAP3K15) | XP_011543812.1:p.Gln809Glu | |
| XM_011545511.1:c.2056C>G (MAP3K15) | XP_011543813.1:p.Gln686Glu | |
| XM_011545531.1:c.*1869G>C (PDHA1) | XP_011543833.1:n.*1869G>C | |
| XM_011545532.1:c.*1869G>C (PDHA1) | XP_011543834.1:n.*1869G>C | |
| XM_011545507.3:c.3406C>G (MAP3K15) | XP_011543809.3:p.Gln1136Glu | |
| XM_011545508.3:c.3319C>G (MAP3K15) | XP_011543810.3:p.Gln1107Glu | |
| XM_011545510.2:c.2425C>G (MAP3K15) | XP_011543812.1:p.Gln809Glu | |
| XM_011545511.2:c.2056C>G (MAP3K15) | XP_011543813.1:p.Gln686Glu | |
| NM_000284.4:c.*1869G>C (PDHA1) MANE Select | NP_000275.1:n.*1869G>C | |
| NM_001001671.4:c.3751C>G (MAP3K15) MANE Select | NP_001001671.3:p.Gln1251Glu | |
| NM_001173454.2:c.*1869G>C (PDHA1) | NP_001166925.1:n.*1869G>C | |
| NM_001173455.2:c.*1869G>C (PDHA1) | NP_001166926.1:n.*1869G>C | |
| NM_001173456.2:c.*1869G>C (PDHA1) | NP_001166927.1:n.*1869G>C |