Linked Data
ClinVar Variation Id:
164159
ClinVar RCV Id:
RCV000151173
RCV000314127
RCV000350432
RCV000402678
RCV001170432
RCV002390324
RCV003129791
RCV003224173
dbSNP Id:
rs371140684
ExAC:
11:47373008 C / T
gnomAD v2:
11-47373008-C-T
gnomAD v3:
11-47351457-C-T
gnomAD v4:
11-47351457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351457C>T , CM000673.2:g.47351457C>T | GRCh38 |
| NC_000011.9:g.47373008C>T , CM000673.1:g.47373008C>T | GRCh37 |
| NC_000011.8:g.47329584C>T | NCBI36 |
| NG_007667.1:g.6246G>A , LRG_386:g.6246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.74G>A MANE Select | ENSP00000442795.1:p.Ser25Asn | |
| ENST00000256993.8:c.74G>A | ENSP00000256993.5:p.Ser25Asn | |
| ENST00000399249.6:c.74G>A | ENSP00000382193.2:p.Ser25Asn | |
| ENST00000544791.1:c.74G>A | ENSP00000444259.1:p.Ser25Asn | |
| ENST00000545968.5:c.74G>A | ENSP00000442795.1:p.Ser25Asn | |
| NM_000256.3:c.74G>A , LRG_386t1:c.74G>A MANE Select | NP_000247.2:p.Ser25Asn | |
| XM_011520117.1:c.74G>A | XP_011518419.1:p.Ser25Asn | |
| XM_011520118.1:c.74G>A | XP_011518420.1:p.Ser25Asn |