Linked Data
dbSNP Id:
rs1052584027
gnomAD v2:
2-113875403-C-T
gnomAD v3:
2-113117826-C-T
gnomAD v4:
2-113117826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117826C>T , CM000664.2:g.113117826C>T | GRCh38 |
| NC_000002.11:g.113875403C>T , CM000664.1:g.113875403C>T | GRCh37 |
| NC_000002.10:g.113591874C>T | NCBI36 |
| NG_021240.1:g.4934C>T , LRG_188:g.4934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2240C>T | ENSP00000387210.1:n.-272-2240C>T | |
| ENST00000465812.6:n.775+161C>T | ||
| ENST00000409052.5:c.-272-2240C>T | ENSP00000387210.1:n.-272-2240C>T | |
| XM_011511121.1:c.-272-2240C>T | XP_011509423.1:n.-272-2240C>T |