Linked Data
ClinVar Variation Id:
13589
ClinVar RCV Id:
RCV000014558
RCV000033192
RCV000178259
RCV000265863
RCV000355961
RCV001255136
RCV001515718
RCV001659696
RCV001843453
RCV002226648
RCV003974821
dbSNP Id:
rs1044498
ExAC:
6:132172368 A / C
gnomAD v2:
6-132172368-A-C
gnomAD v3:
6-131851228-A-C
gnomAD v4:
6-131851228-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851228A>C , CM000668.2:g.131851228A>C | GRCh38 |
| NC_000006.11:g.132172368A>C , CM000668.1:g.132172368A>C | GRCh37 |
| NC_000006.10:g.132214061A>C | NCBI36 |
| NG_008206.1:g.48213A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.517A>C MANE Select | ENSP00000498074.1:p.Lys173Gln | |
| ENST00000650147.1:c.195A>C | ||
| ENST00000650437.1:c.108+1122A>C | ||
| ENST00000360971.6:c.517A>C | ENSP00000354238.2:p.Lys173Gln | |
| ENST00000486853.1:n.537A>C | ||
| ENST00000513998.5:c.517A>C | ENSP00000422424.1:p.Lys173Gln | |
| NM_006208.2:c.517A>C | NP_006199.2:p.Lys173Gln | |
| NM_006208.3:c.517A>C MANE Select | NP_006199.2:p.Lys173Gln |