Linked Data
ClinVar Variation Id:
216733
ClinVar RCV Id:
RCV000197485
RCV000215795
RCV000269145
RCV000339075
RCV000399774
RCV000310273
RCV000363721
RCV002277550
RCV002519574
dbSNP Id:
rs138396764
ExAC:
12:110221437 C / T
gnomAD v2:
12-110221437-C-T
gnomAD v3:
12-109783632-C-T
gnomAD v4:
12-109783632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109783632C>T , CM000674.2:g.109783632C>T | GRCh38 |
| NC_000012.11:g.110221437C>T , CM000674.1:g.110221437C>T | GRCh37 |
| NC_000012.10:g.108705820C>T | NCBI36 |
| NG_017090.1:g.54776G>A , LRG_372:g.54776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2605G>A MANE Select | ENSP00000261740.2:p.Ala869Thr | |
| ENST00000418703.7:c.2605G>A | ENSP00000406191.2:p.Ala869Thr | |
| ENST00000674908.1:c.*1692G>A | ENSP00000502012.1:n.*1692G>A | |
| ENST00000675670.1:c.2605G>A | ENSP00000502135.1:p.Ala869Thr | |
| ENST00000261740.6:c.2605G>A | ENSP00000261740.2:p.Ala869Thr | |
| ENST00000418703.6:c.2605G>A | ENSP00000406191.2:p.Ala869Thr | |
| ENST00000536838.1:c.2503G>A | ENSP00000444336.1:p.Ala835Thr | |
| ENST00000537083.5:c.2425G>A | ENSP00000442738.1:p.Ala809Thr | |
| ENST00000538125.5:c.*988G>A | ENSP00000437449.1:n.*988G>A | |
| ENST00000541794.5:c.2464G>A | ENSP00000442167.1:p.Ala822Thr | |
| ENST00000544971.5:c.2284G>A | ENSP00000443611.1:p.Ala762Thr | |
| NM_001177428.1:c.2464G>A | NP_001170899.1:p.Ala822Thr | |
| NM_001177431.1:c.2503G>A | NP_001170902.1:p.Ala835Thr | |
| NM_001177433.1:c.2284G>A | NP_001170904.1:p.Ala762Thr | |
| NM_021625.4:c.2605G>A , LRG_372t1:c.2605G>A | NP_067638.3:p.Ala869Thr | |
| NM_147204.2:c.2425G>A | NP_671737.1:p.Ala809Thr | |
| XM_005253918.1:c.2605G>A | XP_005253975.1:p.Ala869Thr | |
| XM_011538630.1:c.2605G>A | XP_011536932.1:p.Ala869Thr | |
| XM_011538631.1:c.2464G>A | XP_011536933.1:p.Ala822Thr | |
| XM_011538632.1:c.2425G>A | XP_011536934.1:p.Ala809Thr | |
| XM_011538633.1:c.2284G>A | XP_011536935.1:p.Ala762Thr | |
| XM_011538630.2:c.2758G>A | XP_011536932.2:p.Ala920Thr | |
| XM_011538631.2:c.2617G>A | XP_011536933.2:p.Ala873Thr | |
| XM_011538632.2:c.2578G>A | XP_011536934.2:p.Ala860Thr | |
| XM_011538633.2:c.2437G>A | XP_011536935.2:p.Ala813Thr | |
| XM_017019774.1:c.2605G>A | XP_016875263.1:p.Ala869Thr | |
| NM_021625.5:c.2605G>A MANE Select | NP_067638.3:p.Ala869Thr |