Linked Data
ClinVar Variation Id:
1152117
ClinVar RCV Id:
RCV001493302
dbSNP Id:
rs997396625
gnomAD v3:
21-44287129-C-T
gnomAD v4:
21-44287129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287129C>T , CM000683.2:g.44287129C>T | GRCh38 |
| NC_000021.8:g.45707012C>T , CM000683.1:g.45707012C>T | GRCh37 |
| NC_000021.7:g.44531440C>T | NCBI36 |
| NG_009556.1:g.6250C>T , LRG_18:g.6250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.459C>T MANE Select | ENSP00000291582.5:p.Ser153= | |
| ENST00000291582.5:c.459C>T | ENSP00000291582.5:p.Ser153= | |
| ENST00000527919.5:n.620C>T | ||
| ENST00000530812.5:n.628C>T | ||
| NM_000383.3:c.459C>T | NP_000374.1:p.Ser153= | |
| XM_011529551.1:c.459C>T | XP_011527853.1:p.Ser153= | |
| NM_000383.4:c.459C>T MANE Select | NP_000374.1:p.Ser153= |