Linked Data
ClinVar Variation Id:
320482
ClinVar RCV Id:
RCV000351459
dbSNP Id:
rs563533561
gnomAD v2:
16-74747697-G-A
gnomAD v3:
16-74713799-G-A
gnomAD v4:
16-74713799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713799G>A , CM000678.2:g.74713799G>A | GRCh38 |
| NC_000016.9:g.74747697G>A , CM000678.1:g.74747697G>A | GRCh37 |
| NC_000016.8:g.73305198G>A | NCBI36 |
| NG_017070.1:g.66033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*391C>T MANE Select | ENSP00000219368.3:n.*391C>T | |
| ENST00000219368.7:c.*391C>T | ENSP00000219368.3:n.*391C>T | |
| ENST00000562145.1:n.1231C>T | ||
| ENST00000567683.5:c.*789C>T | ENSP00000455126.1:n.*789C>T | |
| NM_024306.4:c.*391C>T | NP_077282.3:n.*391C>T | |
| XM_011523319.1:c.*391C>T | XP_011521621.1:n.*391C>T | |
| XM_011523319.2:c.*391C>T | XP_011521621.1:n.*391C>T | |
| NM_024306.5:c.*391C>T MANE Select | NP_077282.3:n.*391C>T |