Linked Data
dbSNP Id:
rs921344481
gnomAD v2:
8-63951447-G-A
gnomAD v3:
8-63038888-G-A
gnomAD v4:
8-63038888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038888G>A , CM000670.2:g.63038888G>A | GRCh38 |
| NC_000008.10:g.63951447G>A , CM000670.1:g.63951447G>A | GRCh37 |
| NC_000008.9:g.64114001G>A | NCBI36 |
| NG_028126.1:g.5164C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.520C>T | ||
| ENST00000679326.1:c.-120C>T | ENSP00000504262.1:n.-120C>T | |
| ENST00000260118.6:c.-120C>T | ENSP00000260118.6:n.-120C>T | |
| NM_003878.2:c.-120C>T | NP_003869.1:n.-120C>T | |
| XM_011517623.1:c.-120C>T | XP_011515925.1:n.-120C>T |