Linked Data
dbSNP Id:
rs1411503305
gnomAD v2:
9-100438010-T-A
gnomAD v3:
9-97675728-T-A
gnomAD v4:
9-97675728-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675728T>A , CM000671.2:g.97675728T>A | GRCh38 |
| NC_000009.11:g.100438010T>A , CM000671.1:g.100438010T>A | GRCh37 |
| NC_000009.10:g.99477831T>A | NCBI36 |
| NG_011642.1:g.26682A>T , LRG_471:g.26682A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.674-141A>T MANE Select | ENSP00000364270.5:n.674-141A>T | |
| ENST00000375128.4:c.674-141A>T | ENSP00000364270.4:n.674-141A>T | |
| ENST00000462523.5:c.*110-141A>T | ENSP00000433006.1:n.*110-141A>T | |
| ENST00000485042.1:n.185+43A>T | ||
| NM_000380.3:c.674-141A>T , LRG_471t1:c.674-141A>T | NP_000371.1:n.674-141A>T | |
| NR_027302.1:n.1022-141A>T | ||
| XM_006717278.1:c.674-141A>T | XP_006717341.1:n.674-141A>T | |
| XM_011518988.1:c.674-141A>T | XP_011517290.1:n.674-141A>T | |
| XR_929839.1:n.1204+43A>T | ||
| NM_001354975.1:c.548-141A>T | NP_001341904.1:n.548-141A>T | |
| NR_149091.1:n.519-141A>T | ||
| NR_149092.1:n.685-141A>T | ||
| NR_149093.1:n.1210+43A>T | ||
| NR_149094.1:n.1104+43A>T | ||
| NM_000380.4:c.674-141A>T MANE Select | NP_000371.1:n.674-141A>T | |
| NM_001354975.2:c.548-141A>T | NP_001341904.1:n.548-141A>T | |
| NR_027302.2:n.953-141A>T | ||
| NR_149091.2:n.450-141A>T | ||
| NR_149092.2:n.616-141A>T | ||
| NR_149093.2:n.1141+43A>T | ||
| NR_149094.2:n.1035+43A>T |