Linked Data
ClinVar Variation Id:
3150558
ClinVar RCV Id:
RCV004442965
dbSNP Id:
rs140381161
ExAC:
10:119798603 C / T
gnomAD v2:
10-119798603-C-T
gnomAD v3:
10-118039092-C-T
gnomAD v4:
10-118039092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.118039092C>T , CM000672.2:g.118039092C>T | GRCh38 |
| NC_000010.10:g.119798603C>T , CM000672.1:g.119798603C>T | GRCh37 |
| NC_000010.9:g.119788593C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355624.8:c.1145G>A MANE Select | ENSP00000347839.3:p.Ser382Asn | |
| ENST00000369199.5:c.1145G>A | ENSP00000358200.3:p.Ser382Asn | |
| ENST00000355624.7:c.1145G>A | ENSP00000347839.3:p.Ser382Asn | |
| ENST00000369199.4:c.1145G>A | ENSP00000358200.3:p.Ser382Asn | |
| ENST00000483413.1:n.539G>A | ||
| NM_014904.2:c.1145G>A | NP_055719.1:p.Ser382Asn | |
| XM_005269629.2:c.1145G>A | XP_005269686.1:p.Ser382Asn | |
| XM_011539511.1:c.1145G>A | XP_011537813.1:p.Ser382Asn | |
| XM_011539512.1:c.1145G>A | XP_011537814.1:p.Ser382Asn | |
| XM_011539513.1:c.1145G>A | XP_011537815.1:p.Ser382Asn | |
| NM_001330167.1:c.1145G>A | NP_001317096.1:p.Ser382Asn | |
| XM_017015926.1:c.1145G>A | XP_016871415.1:p.Ser382Asn | |
| NM_014904.3:c.1145G>A MANE Select | NP_055719.1:p.Ser382Asn | |
| NM_001330167.2:c.1145G>A | NP_001317096.1:p.Ser382Asn |