Linked Data
dbSNP Id:
rs4434553
gnomAD v2:
7-100240191-A-G
gnomAD v3:
7-100642568-A-G
gnomAD v4:
7-100642568-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100642568A>G , CM000669.2:g.100642568A>G | GRCh38 |
| NC_000007.13:g.100240191A>G , CM000669.1:g.100240191A>G | GRCh37 |
| NC_000007.12:g.100078127A>G | NCBI36 |
| NG_007989.1:g.3983T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462107.1:c.-258+123T>C | ENSP00000420525.1:n.-258+123T>C | |
| ENST00000474947.1:n.89+123T>C | ||
| XM_005250553.3:c.-258+123T>C | XP_005250610.1:n.-258+123T>C | |
| XM_005250554.3:c.-258+123T>C | XP_005250611.1:n.-258+123T>C | |
| XM_005250553.4:c.-258+123T>C | XP_005250610.1:n.-258+123T>C | |
| XM_017012573.1:c.-70+123T>C | XP_016868062.1:n.-70+123T>C |