Linked Data
dbSNP Id:
rs957312740
gnomAD v2:
19-11071621-G-T
gnomAD v3:
19-10960945-G-T
gnomAD v4:
19-10960945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10960945G>T , CM000681.2:g.10960945G>T | GRCh38 |
| NC_000019.9:g.11071621G>T , CM000681.1:g.11071621G>T | GRCh37 |
| NC_000019.8:g.10932621G>T | NCBI36 |
| NG_011556.2:g.5024G>T | |
| NG_011556.3:g.5014G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642726.1:c.-258G>T | ENSP00000494353.1:n.-258G>T | |
| ENST00000643549.1:c.-258G>T | ENSP00000493975.1:n.-258G>T | |
| ENST00000644737.1:c.-258G>T | ENSP00000495548.1:n.-258G>T | |
| ENST00000646484.1:c.-258G>T | ENSP00000495536.1:n.-258G>T | |
| ENST00000646693.1:c.-258G>T | ENSP00000495368.1:n.-258G>T | |
| NM_001128844.1:c.-337G>T | NP_001122316.1:n.-337G>T | |
| NM_003072.3:c.-261G>T | NP_003063.2:n.-261G>T |