Linked Data
ClinVar Variation Id:
438211
ClinVar RCV Id:
RCV000504943
RCV000513566
RCV000625446
RCV001074080
RCV001277019
RCV001700135
RCV003915401
dbSNP Id:
rs112822256
ExAC:
6:66115146 C / T
gnomAD v2:
6-66115146-C-T
gnomAD v3:
6-65405253-C-T
gnomAD v4:
6-65405253-C-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65405253C>T , CM000668.2:g.65405253C>T | GRCh38 |
| NC_000006.11:g.66115146C>T , CM000668.1:g.66115146C>T | GRCh37 |
| NC_000006.10:g.66171867C>T | NCBI36 |
| NG_023443.1:g.306973G>A | |
| NG_023443.2:g.306973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.977G>A MANE Select | ENSP00000424243.1:p.Ser326Asn | |
| ENST00000342421.9:c.977G>A | ENSP00000341818.5:p.Ser326Asn | |
| ENST00000370616.6:c.977G>A | ENSP00000359650.2:p.Ser326Asn | |
| ENST00000370618.7:c.977G>A | ENSP00000359652.4:p.Ser326Asn | |
| ENST00000370621.7:c.977G>A | ENSP00000359655.3:p.Ser326Asn | |
| ENST00000393380.6:c.977G>A | ENSP00000377042.2:p.Ser326Asn | |
| ENST00000503581.5:c.977G>A | ENSP00000424243.1:p.Ser326Asn | |
| NM_001142800.1:c.977G>A | NP_001136272.1:p.Ser326Asn | |
| NM_001142801.1:c.977G>A | NP_001136273.1:p.Ser326Asn | |
| NM_001292009.1:c.977G>A | NP_001278938.1:p.Ser326Asn | |
| NM_198283.1:c.977G>A | NP_938024.1:p.Ser326Asn | |
| NM_001142800.2:c.977G>A MANE Select | NP_001136272.1:p.Ser326Asn | |
| NM_001142801.2:c.977G>A | NP_001136273.1:p.Ser326Asn | |
| NM_001292009.2:c.977G>A | NP_001278938.1:p.Ser326Asn | |
| NM_198283.2:c.977G>A | NP_938024.1:p.Ser326Asn |