Linked Data
ClinVar Variation Id:
36602
ClinVar RCV Id:
RCV000151126
RCV000469629
RCV000617682
RCV000755680
RCV000777739
RCV001103227
RCV001719700
dbSNP Id:
rs181834806
ExAC:
11:47364209 T / C
gnomAD v2:
11-47364209-T-C
gnomAD v3:
11-47342658-T-C
gnomAD v4:
11-47342658-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342658T>C , CM000673.2:g.47342658T>C | GRCh38 |
| NC_000011.9:g.47364209T>C , CM000673.1:g.47364209T>C | GRCh37 |
| NC_000011.8:g.47320785T>C | NCBI36 |
| NG_007667.1:g.15045A>G , LRG_386:g.15045A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1544A>G MANE Select | ENSP00000442795.1:p.Asn515Ser | |
| ENST00000256993.8:c.1544A>G | ENSP00000256993.5:p.Asn515Ser | |
| ENST00000399249.6:c.1544A>G | ENSP00000382193.2:p.Asn515Ser | |
| ENST00000544791.1:c.1544A>G | ENSP00000444259.1:p.Asn515Ser | |
| ENST00000545968.5:c.1544A>G | ENSP00000442795.1:p.Asn515Ser | |
| NM_000256.3:c.1544A>G , LRG_386t1:c.1544A>G MANE Select | NP_000247.2:p.Asn515Ser | |
| XM_011520117.1:c.1526A>G | XP_011518419.1:p.Asn509Ser | |
| XM_011520118.1:c.1544A>G | XP_011518420.1:p.Asn515Ser |