Linked Data
dbSNP Id:
rs17791782
gnomAD v2:
20-17566069-A-T
gnomAD v3:
20-17585424-A-T
gnomAD v4:
20-17585424-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17585424A>T , CM000682.2:g.17585424A>T | GRCh38 |
| NC_000020.10:g.17566069A>T , CM000682.1:g.17566069A>T | GRCh37 |
| NC_000020.9:g.17514069A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246069.12:c.3+15213A>T MANE Select | ENSP00000246069.6:n.3+15213A>T | |
| ENST00000246069.11:c.3+15213A>T | ENSP00000246069.6:n.3+15213A>T | |
| ENST00000449141.2:c.3+15213A>T | ENSP00000434355.1:n.3+15213A>T | |
| ENST00000474024.5:c.-180-6508A>T | ENSP00000476975.1:n.-180-6508A>T | |
| NM_001011546.1:c.-180-6508A>T | NP_001011546.1:n.-180-6508A>T | |
| NM_006870.3:c.3+15213A>T | NP_006861.1:n.3+15213A>T | |
| XM_011529142.1:c.3+15213A>T | XP_011527444.1:n.3+15213A>T | |
| XM_011529143.1:c.3+15213A>T | XP_011527445.1:n.3+15213A>T | |
| XM_011529144.1:c.-180-6508A>T | XP_011527446.1:n.-180-6508A>T | |
| NM_006870.4:c.3+15213A>T MANE Select | NP_006861.1:n.3+15213A>T | |
| NM_001011546.2:c.-180-6508A>T | NP_001011546.1:n.-180-6508A>T |