Linked Data
ClinVar Variation Id:
286450
ClinVar RCV Id:
RCV000498271
RCV000414780
RCV000627020
RCV001068054
RCV001198354
RCV001808736
RCV002288963
RCV004017585
dbSNP Id:
rs375014127
ExAC:
11:22283708 G / T
gnomAD v2:
11-22283708-G-T
gnomAD v3:
11-22262162-G-T
gnomAD v4:
11-22262162-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22262162G>T , CM000673.2:g.22262162G>T | GRCh38 |
| NC_000011.9:g.22283708G>T , CM000673.1:g.22283708G>T | GRCh37 |
| NC_000011.8:g.22240284G>T | NCBI36 |
| NG_015844.1:g.73987G>T , LRG_868:g.73987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1214G>T | ENSP00000507766.1:p.Ser405Ile | |
| ENST00000682341.1:c.1622G>T | ENSP00000508251.1:p.Ser541Ile | |
| ENST00000683197.1:c.1622G>T | ENSP00000507641.1:p.Ser541Ile | |
| ENST00000683411.1:c.1214G>T | ENSP00000508397.1:p.Ser405Ile | |
| ENST00000683437.1:c.1214G>T | ENSP00000508408.1:p.Ser405Ile | |
| ENST00000683613.1:n.2658G>T | ||
| ENST00000684663.1:c.1619G>T | ENSP00000508009.1:p.Ser540Ile | |
| ENST00000324559.9:c.1664G>T MANE Select | ENSP00000315371.9:p.Ser555Ile | |
| ENST00000648804.1:n.1999G>T | ||
| ENST00000324559.8:c.1664G>T | ENSP00000315371.8:p.Ser555Ile | |
| NM_001142649.1:c.1661G>T | NP_001136121.1:p.Ser554Ile | |
| NM_213599.2:c.1664G>T , LRG_868t1:c.1664G>T | NP_998764.1:p.Ser555Ile | |
| XM_005252820.2:c.1622G>T | XP_005252877.2:p.Ser541Ile | |
| XM_005252821.2:c.1619G>T | XP_005252878.2:p.Ser540Ile | |
| XM_005252822.3:c.1586G>T | XP_005252879.1:p.Ser529Ile | |
| XM_005252823.3:c.1583G>T | XP_005252880.1:p.Ser528Ile | |
| XM_011519949.1:c.1571G>T | XP_011518251.1:p.Ser524Ile | |
| XM_005252820.3:c.1622G>T | XP_005252877.2:p.Ser541Ile | |
| XM_005252821.3:c.1619G>T | XP_005252878.2:p.Ser540Ile | |
| XM_005252822.4:c.1586G>T | XP_005252879.1:p.Ser529Ile | |
| XM_011519949.2:c.1571G>T | XP_011518251.1:p.Ser524Ile | |
| NM_001142649.2:c.1661G>T | NP_001136121.1:p.Ser554Ile | |
| NM_213599.3:c.1664G>T MANE Select | NP_998764.1:p.Ser555Ile |