Linked Data
ClinVar Variation Id:
2716390
ClinVar RCV Id:
RCV003513883
dbSNP Id:
rs373949480
ExAC:
16:30767730 G / A
gnomAD v2:
16-30767730-G-A
gnomAD v3:
16-30756409-G-A
gnomAD v4:
16-30756409-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756409G>A , CM000678.2:g.30756409G>A | GRCh38 |
| NC_000016.9:g.30767730G>A , CM000678.1:g.30767730G>A | GRCh37 |
| NC_000016.8:g.30675231G>A | NCBI36 |
| NG_016616.1:g.13111G>A | |
| NG_016616.2:g.13111G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563588.6:c.690G>A MANE Select | ENSP00000455607.1:p.Ser230= | |
| ENST00000328273.11:c.702G>A | ENSP00000329968.7:p.Ser234= | |
| ENST00000424889.7:c.690G>A | ENSP00000388571.3:p.Ser230= | |
| ENST00000563588.5:c.690G>A | ENSP00000455607.1:p.Ser230= | |
| ENST00000563913.5:n.1023G>A | ||
| ENST00000564838.5:n.931-181G>A | ||
| ENST00000565897.5:c.690G>A | ENSP00000457359.1:p.Ser230= | |
| ENST00000565924.5:c.690G>A | ENSP00000455091.1:p.Ser230= | |
| ENST00000569684.1:n.1114G>A | ||
| NM_000294.2:c.690G>A | NP_000285.1:p.Ser230= | |
| NM_001172432.1:c.690G>A | NP_001165903.1:p.Ser230= | |
| NM_000294.3:c.690G>A MANE Select | NP_000285.1:p.Ser230= | |
| NM_001172432.2:c.690G>A | NP_001165903.1:p.Ser230= |