Linked Data
dbSNP Id:
rs1352260123
gnomAD v2:
11-64365980-C-T
gnomAD v3:
11-64598508-C-T
gnomAD v4:
11-64598508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64598508C>T , CM000673.2:g.64598508C>T | GRCh38 |
| NC_000011.9:g.64365980C>T , CM000673.1:g.64365980C>T | GRCh37 |
| NC_000011.8:g.64122556C>T | NCBI36 |
| NG_008110.1:g.12699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.831-8C>T MANE Select | ENSP00000366797.1:n.831-8C>T | |
| ENST00000336464.7:c.729-8C>T | ENSP00000336836.7:n.729-8C>T | |
| ENST00000377567.6:c.507-8C>T | ENSP00000366790.2:n.507-8C>T | |
| ENST00000377572.5:c.507-8C>T | ENSP00000366795.1:n.507-8C>T | |
| ENST00000377574.5:c.831-8C>T | ENSP00000366797.1:n.831-8C>T | |
| ENST00000473690.5:c.168-8C>T | ENSP00000438437.1:n.168-8C>T | |
| NM_001276326.1:c.729-8C>T | NP_001263255.1:n.729-8C>T | |
| NM_001276327.1:c.507-8C>T | NP_001263256.1:n.507-8C>T | |
| NM_144585.3:c.831-8C>T | NP_653186.2:n.831-8C>T | |
| NM_153378.2:c.168-8C>T | NP_700357.1:n.168-8C>T | |
| XM_006718430.2:c.906-8C>T | XP_006718493.1:n.906-8C>T | |
| XM_006718431.2:c.801-8C>T | XP_006718494.1:n.801-8C>T | |
| XM_006718430.4:c.906-8C>T | XP_006718493.1:n.906-8C>T | |
| XM_006718431.4:c.801-8C>T | XP_006718494.1:n.801-8C>T | |
| NM_144585.4:c.831-8C>T MANE Select | NP_653186.2:n.831-8C>T | |
| NM_001276326.2:c.729-8C>T | NP_001263255.1:n.729-8C>T | |
| NM_153378.3:c.168-8C>T | NP_700357.1:n.168-8C>T | |
| NM_001276327.2:c.507-8C>T | NP_001263256.1:n.507-8C>T |