Linked Data
ClinVar Variation Id:
13059
ClinVar RCV Id:
RCV000013934
dbSNP Id:
rs121918586
ExAC:
6:49586997 C / T
gnomAD v2:
6-49586997-C-T
gnomAD v4:
6-49619284-C-T
PubMed:
PMID:8563755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49619284C>T , CM000668.2:g.49619284C>T | GRCh38 |
| NC_000006.11:g.49586997C>T , CM000668.1:g.49586997C>T | GRCh37 |
| NC_000006.10:g.49694956C>T | NCBI36 |
| NG_011704.1:g.22591G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.236G>A MANE Select | ENSP00000360217.4:p.Ser79Asn | |
| ENST00000642530.1:n.511G>A | ||
| ENST00000646272.1:c.236G>A | ENSP00000494337.1:p.Ser79Asn | |
| ENST00000646939.1:c.236G>A | ENSP00000494709.1:p.Ser79Asn | |
| ENST00000646963.1:c.236G>A | ENSP00000495337.1:p.Ser79Asn | |
| ENST00000229810.9:c.236G>A | ENSP00000229810.8:p.Ser79Asn | |
| ENST00000371175.8:c.236G>A | ENSP00000360217.4:p.Ser79Asn | |
| ENST00000618248.3:c.236G>A | ENSP00000482984.1:p.Ser79Asn | |
| NM_000324.2:c.236G>A | NP_000315.2:p.Ser79Asn | |
| XM_011514788.1:c.236G>A | XP_011513090.1:p.Ser79Asn | |
| NM_000324.3:c.236G>A MANE Select | NP_000315.2:p.Ser79Asn |