Linked Data
ClinVar Variation Id:
1595955
ClinVar RCV Id:
RCV002117241
dbSNP Id:
rs200271594
ExAC:
16:2036011 G / A
gnomAD v2:
16-2036011-G-A
gnomAD v3:
16-1986010-G-A
gnomAD v4:
16-1986010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986010G>A , CM000678.2:g.1986010G>A | GRCh38 |
| NC_000016.9:g.2036011G>A , CM000678.1:g.2036011G>A | GRCh37 |
| NC_000016.8:g.1976012G>A | NCBI36 |
| NG_016288.1:g.6862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.375G>A | ENSP00000455885.1:p.Lys125= | |
| ENST00000248114.7:c.600G>A MANE Select | ENSP00000248114.6:p.Lys200= | |
| ENST00000248114.6:c.600G>A | ENSP00000248114.6:p.Lys200= | |
| ENST00000565658.1:n.757G>A | ||
| ENST00000567719.1:c.375G>A | ENSP00000455885.1:p.Lys125= | |
| ENST00000569451.1:c.*73G>A | ENSP00000456432.1:n.*73G>A | |
| NM_005262.2:c.600G>A | NP_005253.3:p.Lys200= | |
| NM_005262.3:c.600G>A MANE Select | NP_005253.3:p.Lys200= |