Linked Data
dbSNP Id:
rs1249409219
gnomAD v2:
1-98293640-G-A
gnomAD v3:
1-97828084-G-A
gnomAD v4:
1-97828084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97828084G>A , CM000663.2:g.97828084G>A | GRCh38 |
| NC_000001.10:g.98293640G>A , CM000663.1:g.98293640G>A | GRCh37 |
| NC_000001.9:g.98066228G>A | NCBI36 |
| NG_008807.2:g.97976C>T , LRG_722:g.97976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.233+30C>T MANE Select | ENSP00000359211.3:n.233+30C>T | |
| ENST00000306031.5:c.233+30C>T | ENSP00000307107.5:n.233+30C>T | |
| ENST00000370192.7:c.233+30C>T | ENSP00000359211.3:n.233+30C>T | |
| NM_000110.3:c.233+30C>T , LRG_722t1:c.233+30C>T | NP_000101.2:n.233+30C>T | |
| NM_001160301.1:c.233+30C>T , LRG_722t2:c.233+30C>T | NP_001153773.1:n.233+30C>T | |
| XM_005270562.3:c.233+30C>T | XP_005270619.2:n.233+30C>T | |
| XM_006710397.2:c.233+30C>T | XP_006710460.1:n.233+30C>T | |
| XM_006710397.3:c.233+30C>T | XP_006710460.1:n.233+30C>T | |
| XM_017000507.1:c.122+30C>T | XP_016855996.1:n.122+30C>T | |
| XM_017000508.2:c.-478+30C>T | XP_016855997.1:n.-478+30C>T | |
| XM_017000509.2:c.-376+30C>T | XP_016855998.1:n.-376+30C>T | |
| XM_017000510.1:c.-376+30C>T | XP_016855999.1:n.-376+30C>T | |
| XR_001737014.1:n.370+30C>T | ||
| NM_000110.4:c.233+30C>T MANE Select | NP_000101.2:n.233+30C>T |