Linked Data
dbSNP Id:
rs1378496040
gnomAD v2:
20-32588139-G-T
gnomAD v3:
20-34000333-G-T
gnomAD v4:
20-34000333-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34000333G>T , CM000682.2:g.34000333G>T | GRCh38 |
| NC_000020.10:g.32588139G>T , CM000682.1:g.32588139G>T | GRCh37 |
| NC_000020.9:g.32051800G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246194.8:c.-93+6202G>T MANE Select | ENSP00000246194.3:n.-93+6202G>T | |
| ENST00000246194.7:c.-93+6202G>T | ENSP00000246194.3:n.-93+6202G>T | |
| ENST00000333552.9:c.-93+6202G>T | ENSP00000327522.5:n.-93+6202G>T | |
| ENST00000375114.7:c.-93+6202G>T | ENSP00000364255.3:n.-93+6202G>T | |
| ENST00000413297.5:c.-169+6202G>T | ENSP00000403744.1:n.-169+6202G>T | |
| ENST00000448364.5:c.-210+6202G>T | ENSP00000413638.1:n.-210+6202G>T | |
| NM_007367.3:c.-93+6202G>T | NP_031393.2:n.-93+6202G>T | |
| NM_016732.2:c.-93+6202G>T | NP_057951.1:n.-93+6202G>T | |
| XM_005260334.3:c.-10+6202G>T | XP_005260391.1:n.-10+6202G>T | |
| XM_005260336.3:c.-10+6202G>T | XP_005260393.1:n.-10+6202G>T | |
| XM_011528695.1:c.-210+6202G>T | XP_011526997.1:n.-210+6202G>T | |
| XM_005260334.5:c.-10+6202G>T | XP_005260391.1:n.-10+6202G>T | |
| XM_005260336.5:c.-10+6202G>T | XP_005260393.1:n.-10+6202G>T | |
| XM_011528695.3:c.-210+6202G>T | XP_011526997.1:n.-210+6202G>T | |
| XM_017027731.2:c.-10+6202G>T | XP_016883220.1:n.-10+6202G>T | |
| XM_024451859.1:c.-93+6202G>T | XP_024307627.1:n.-93+6202G>T | |
| NM_016732.3:c.-93+6202G>T MANE Select | NP_057951.1:n.-93+6202G>T | |
| NM_007367.4:c.-93+6202G>T | NP_031393.2:n.-93+6202G>T |