Linked Data
ClinVar Variation Id:
528011
ClinVar RCV Id:
RCV000633060
dbSNP Id:
rs375479162
gnomAD v2:
16-74748152-G-A
gnomAD v3:
16-74714254-G-A
gnomAD v4:
16-74714254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74714254G>A , CM000678.2:g.74714254G>A | GRCh38 |
| NC_000016.9:g.74748152G>A , CM000678.1:g.74748152G>A | GRCh37 |
| NC_000016.8:g.73305653G>A | NCBI36 |
| NG_017070.1:g.65578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.1055C>T MANE Select | ENSP00000219368.3:p.Thr352Ile | |
| ENST00000219368.7:c.1055C>T | ENSP00000219368.3:p.Thr352Ile | |
| ENST00000562145.1:n.776C>T | ||
| ENST00000567683.5:c.*334C>T | ENSP00000455126.1:n.*334C>T | |
| NM_024306.4:c.1055C>T | NP_077282.3:p.Thr352Ile | |
| XM_011523319.1:c.815C>T | XP_011521621.1:p.Thr272Ile | |
| XM_011523319.2:c.815C>T | XP_011521621.1:p.Thr272Ile | |
| NM_024306.5:c.1055C>T MANE Select | NP_077282.3:p.Thr352Ile |