Linked Data
ClinVar Variation Id:
178305
dbSNP Id:
rs370762269
ExAC:
10:73537483 C / T
gnomAD v2:
10-73537483-C-T
gnomAD v3:
10-71777726-C-T
gnomAD v4:
10-71777726-C-T
PubMed:
PMID:23804846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71777726C>T , CM000672.2:g.71777726C>T | GRCh38 |
| NC_000010.10:g.73537483C>T , CM000672.1:g.73537483C>T | GRCh37 |
| NC_000010.9:g.73207489C>T | NCBI36 |
| NG_008835.1:g.385780C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4892C>T MANE Select | ENSP00000224721.9:p.Ala1631Val | |
| ENST00000224721.10:c.4907C>T | ENSP00000224721.8:p.Ala1636Val | |
| ENST00000622827.4:c.4892C>T | ENSP00000483211.1:p.Ala1631Val | |
| NM_022124.5:c.4892C>T | NP_071407.4:p.Ala1631Val | |
| XM_006717940.2:c.5087C>T | XP_006718003.1:p.Ala1696Val | |
| XM_006717942.2:c.5021C>T | XP_006718005.1:p.Ala1674Val | |
| XM_011540039.1:c.5084C>T | XP_011538341.1:p.Ala1695Val | |
| XM_011540040.1:c.5081C>T | XP_011538342.1:p.Ala1694Val | |
| XM_011540041.1:c.5027C>T | XP_011538343.1:p.Ala1676Val | |
| XM_011540042.1:c.5087C>T | XP_011538344.1:p.Ala1696Val | |
| XM_011540043.1:c.5087C>T | XP_011538345.1:p.Ala1696Val | |
| XM_011540044.1:c.4952C>T | XP_011538346.1:p.Ala1651Val | |
| XM_011540045.1:c.5087C>T | XP_011538347.1:p.Ala1696Val | |
| XM_011540046.1:c.4547C>T | XP_011538348.1:p.Ala1516Val | |
| XM_011540047.1:c.3905C>T | XP_011538349.1:p.Ala1302Val | |
| XM_011540048.1:c.5087C>T | XP_011538350.1:p.Ala1696Val | |
| XM_011540049.1:c.5087C>T | XP_011538351.1:p.Ala1696Val | |
| XM_011540050.1:c.5087C>T | XP_011538352.1:p.Ala1696Val | |
| XM_011540051.1:c.5087C>T | XP_011538353.1:p.Ala1696Val | |
| XM_011540052.1:c.1415C>T | XP_011538354.1:p.Ala472Val | |
| XM_011540053.1:c.5087C>T | XP_011538355.1:p.Ala1696Val | |
| XR_945796.1:n.5330C>T | ||
| NM_022124.6:c.4892C>T MANE Select | NP_071407.4:p.Ala1631Val |