Linked Data
dbSNP Id:
rs1215372763
gnomAD v2:
7-113741117-G-T
gnomAD v3:
7-114101062-G-T
gnomAD v4:
7-114101062-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114101062G>T , CM000669.2:g.114101062G>T | GRCh38 |
| NC_000007.13:g.113741117G>T , CM000669.1:g.113741117G>T | GRCh37 |
| NC_000007.12:g.113528353G>T | NCBI36 |
| NG_007491.2:g.19753G>T | |
| NG_007491.3:g.19753G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703612.1:c.-247+14451G>T | ENSP00000515396.1:n.-247+14451G>T | |
| ENST00000703613.1:c.-365+14451G>T | ENSP00000515397.1:n.-365+14451G>T | |
| ENST00000703614.1:c.-247+14451G>T | ENSP00000515398.1:n.-247+14451G>T | |
| ENST00000703615.1:c.-365+14451G>T | ENSP00000515399.1:n.-365+14451G>T | |
| ENST00000703616.1:c.-247+13224G>T | ENSP00000515400.1:n.-247+13224G>T | |
| ENST00000412402.5:c.-102+14451G>T | ENSP00000405470.1:n.-102+14451G>T | |
| ENST00000440349.5:c.-247+14451G>T | ENSP00000395552.1:n.-247+14451G>T | |
| ENST00000441290.6:c.-435+14451G>T | ENSP00000416825.1:n.-435+14451G>T | |
| ENST00000495516.1:n.105+12792G>T | ||
| ENST00000635638.1:c.-247+13224G>T | ENSP00000489073.1:n.-247+13224G>T | |
| NR_033766.1:n.302+14451G>T | ||
| XM_011516706.1:c.-360+14451G>T | XP_011515008.1:n.-360+14451G>T | |
| XM_017012801.2:c.-247+12634G>T | XP_016868290.1:n.-247+12634G>T | |
| NR_033766.2:n.285+14451G>T |