Linked Data
ClinVar Variation Id:
1120917
ClinVar RCV Id:
RCV001450998
dbSNP Id:
rs373644319
gnomAD v4:
9-97675544-C-A
MyVariant Identifiers:
chr9:g.100437826C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675544C>A , CM000671.2:g.97675544C>A | GRCh38 |
| NC_000009.11:g.100437826C>A , CM000671.1:g.100437826C>A | GRCh37 |
| NC_000009.10:g.99477647C>A | NCBI36 |
| NG_011642.1:g.26866G>T , LRG_471:g.26866G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.717G>T MANE Select | ENSP00000364270.5:p.Thr239= | |
| ENST00000375128.4:c.717G>T | ENSP00000364270.4:p.Thr239= | |
| ENST00000462523.5:c.*153G>T | ENSP00000433006.1:n.*153G>T | |
| ENST00000485042.1:n.229G>T | ||
| NM_000380.3:c.717G>T , LRG_471t1:c.717G>T | NP_000371.1:p.Thr239= | |
| NR_027302.1:n.1065G>T | ||
| XM_006717278.1:c.717G>T | XP_006717341.1:p.Thr239= | |
| XM_011518988.1:c.717G>T | XP_011517290.1:p.Thr239= | |
| XR_929839.1:n.1248G>T | ||
| NM_001354975.1:c.591G>T | NP_001341904.1:p.Thr197= | |
| NR_149091.1:n.562G>T | ||
| NR_149092.1:n.728G>T | ||
| NR_149093.1:n.1254G>T | ||
| NR_149094.1:n.1148G>T | ||
| NM_000380.4:c.717G>T MANE Select | NP_000371.1:p.Thr239= | |
| NM_001354975.2:c.591G>T | NP_001341904.1:p.Thr197= | |
| NR_027302.2:n.996G>T | ||
| NR_149091.2:n.493G>T | ||
| NR_149092.2:n.659G>T | ||
| NR_149093.2:n.1185G>T | ||
| NR_149094.2:n.1079G>T |