Linked Data
dbSNP Id:
rs922167360
gnomAD v2:
3-190125831-C-T
gnomAD v3:
3-190408042-C-T
gnomAD v4:
3-190408042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408042C>T , CM000665.2:g.190408042C>T | GRCh38 |
| NC_000003.11:g.190125831C>T , CM000665.1:g.190125831C>T | GRCh37 |
| NC_000003.10:g.191608525C>T | NCBI36 |
| NG_008149.1:g.24991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.383-272C>T MANE Select | ENSP00000264734.3:n.383-272C>T | |
| ENST00000456423.2:c.115-1861C>T | ENSP00000414136.2:n.115-1861C>T | |
| ENST00000264734.2:c.593-272C>T | ENSP00000264734.2:n.593-272C>T | |
| ENST00000456423.1:c.325-1861C>T | ENSP00000414136.1:n.325-1861C>T | |
| NM_006580.3:c.593-272C>T | NP_006571.1:n.593-272C>T | |
| NM_001378492.1:c.383-272C>T | NP_001365421.1:n.383-272C>T | |
| NM_001378493.1:c.383-272C>T | NP_001365422.1:n.383-272C>T | |
| NM_006580.4:c.383-272C>T MANE Select | NP_006571.2:n.383-272C>T |