Linked Data
ClinVar Variation Id:
178654
ClinVar RCV Id:
RCV000155410
RCV000386661
RCV000433970
RCV000445506
RCV000333986
RCV002464131
RCV002498754
dbSNP Id:
rs41264699
ExAC:
4:6293040 A / C
gnomAD v2:
4-6293040-A-C
gnomAD v3:
4-6291313-A-C
gnomAD v4:
4-6291313-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291313A>C , CM000666.2:g.6291313A>C | GRCh38 |
| NC_000004.11:g.6293040A>C , CM000666.1:g.6293040A>C | GRCh37 |
| NC_000004.10:g.6343941A>C | NCBI36 |
| NG_011700.1:g.26464A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.577A>C | ENSP00000507852.1:p.Lys193Gln | |
| ENST00000683395.1:c.567A>C | ||
| ENST00000684087.1:c.577A>C | ENSP00000506978.1:p.Lys193Gln | |
| ENST00000684700.1:c.577A>C | ENSP00000507806.1:p.Lys193Gln | |
| ENST00000506362.2:c.328A>C | ENSP00000424103.2:p.Lys110Gln | |
| ENST00000673642.1:c.376A>C | ENSP00000501242.1:p.Lys126Gln | |
| ENST00000673991.1:c.577A>C | ENSP00000501033.1:p.Lys193Gln | |
| ENST00000226760.5:c.577A>C MANE Select | ENSP00000226760.1:p.Lys193Gln | |
| ENST00000503569.5:c.577A>C | ENSP00000423337.1:p.Lys193Gln | |
| ENST00000506362.1:c.174A>C | ||
| ENST00000507765.1:n.762A>C | ||
| NM_001145853.1:c.577A>C | NP_001139325.1:p.Lys193Gln | |
| NM_006005.3:c.577A>C MANE Select | NP_005996.2:p.Lys193Gln | |
| XM_017008586.1:c.586A>C | XP_016864075.1:p.Lys196Gln |