Linked Data
ClinVar Variation Id:
300440
dbSNP Id:
rs757049933
ExAC:
10:73537628 C / T
gnomAD v2:
10-73537628-C-T
gnomAD v3:
10-71777871-C-T
gnomAD v4:
10-71777871-C-T
COSMIC:
COSM3440283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71777871C>T , CM000672.2:g.71777871C>T | GRCh38 |
| NC_000010.10:g.73537628C>T , CM000672.1:g.73537628C>T | GRCh37 |
| NC_000010.9:g.73207634C>T | NCBI36 |
| NG_008835.1:g.385925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5037C>T MANE Select | ENSP00000224721.9:p.Ile1679= | |
| ENST00000224721.10:c.5052C>T | ENSP00000224721.8:p.Ile1684= | |
| ENST00000622827.4:c.5037C>T | ENSP00000483211.1:p.Ile1679= | |
| NM_022124.5:c.5037C>T | NP_071407.4:p.Ile1679= | |
| XM_006717940.2:c.5232C>T | XP_006718003.1:p.Ile1744= | |
| XM_006717942.2:c.5166C>T | XP_006718005.1:p.Ile1722= | |
| XM_011540039.1:c.5229C>T | XP_011538341.1:p.Ile1743= | |
| XM_011540040.1:c.5226C>T | XP_011538342.1:p.Ile1742= | |
| XM_011540041.1:c.5172C>T | XP_011538343.1:p.Ile1724= | |
| XM_011540042.1:c.5232C>T | XP_011538344.1:p.Ile1744= | |
| XM_011540043.1:c.5232C>T | XP_011538345.1:p.Ile1744= | |
| XM_011540044.1:c.5097C>T | XP_011538346.1:p.Ile1699= | |
| XM_011540045.1:c.5232C>T | XP_011538347.1:p.Ile1744= | |
| XM_011540046.1:c.4692C>T | XP_011538348.1:p.Ile1564= | |
| XM_011540047.1:c.4050C>T | XP_011538349.1:p.Ile1350= | |
| XM_011540048.1:c.5232C>T | XP_011538350.1:p.Ile1744= | |
| XM_011540049.1:c.5232C>T | XP_011538351.1:p.Ile1744= | |
| XM_011540050.1:c.5232C>T | XP_011538352.1:p.Ile1744= | |
| XM_011540051.1:c.5232C>T | XP_011538353.1:p.Ile1744= | |
| XM_011540052.1:c.1560C>T | XP_011538354.1:p.Ile520= | |
| XM_011540053.1:c.5232C>T | XP_011538355.1:p.Ile1744= | |
| XR_945796.1:n.5475C>T | ||
| NM_022124.6:c.5037C>T MANE Select | NP_071407.4:p.Ile1679= |