Linked Data
ClinVar Variation Id:
828470
ClinVar RCV Id:
RCV001028380
dbSNP Id:
rs1469997583
gnomAD v2:
6-154360532-C-T
gnomAD v4:
6-154039397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154039397C>T , CM000668.2:g.154039397C>T | GRCh38 |
| NC_000006.11:g.154360532C>T , CM000668.1:g.154360532C>T | GRCh37 |
| NC_000006.10:g.154402225C>T | NCBI36 |
| NG_021208.1:g.33897C>T | |
| NG_021208.2:g.33897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330432.12:c.-148C>T MANE Select | ENSP00000328264.7:n.-148C>T | |
| ENST00000330432.11:c.-148C>T | ENSP00000328264.7:n.-148C>T | |
| ENST00000360422.8:c.39C>T | ENSP00000353598.5:p.Leu13= | |
| ENST00000428397.6:c.-148C>T | ENSP00000411903.2:n.-148C>T | |
| ENST00000434900.6:c.146-14C>T | ENSP00000394624.2:n.146-14C>T | |
| ENST00000518759.5:c.47+28838C>T | ENSP00000430260.1:n.47+28838C>T | |
| ENST00000520282.5:c.11-14C>T | ENSP00000430247.1:n.11-14C>T | |
| ENST00000520708.5:c.-11+28379C>T | ENSP00000430876.1:n.-11+28379C>T | |
| ENST00000523520.1:n.34C>T | ||
| NM_000914.4:c.-148C>T | NP_000905.3:n.-148C>T | |
| NM_001008504.3:c.-148C>T | NP_001008504.2:n.-148C>T | |
| NM_001145279.3:c.146-14C>T | NP_001138751.1:n.146-14C>T | |
| NM_001145280.3:c.-11+28379C>T | NP_001138752.1:n.-11+28379C>T | |
| NM_001145281.2:c.47+28838C>T | NP_001138753.1:n.47+28838C>T | |
| NM_001285522.1:c.-148C>T | NP_001272451.1:n.-148C>T | |
| NM_001285523.1:c.-148C>T | NP_001272452.1:n.-148C>T | |
| NM_001285524.1:c.146-14C>T | NP_001272453.1:n.146-14C>T | |
| XM_006715497.2:c.39C>T | XP_006715560.1:p.Leu13= | |
| XM_011535849.1:c.146-14C>T | XP_011534151.1:n.146-14C>T | |
| NM_001285523.2:c.-148C>T | NP_001272452.1:n.-148C>T | |
| XM_017010907.2:c.39C>T | XP_016866396.1:p.Leu13= | |
| NM_000914.5:c.-148C>T MANE Select | NP_000905.3:n.-148C>T | |
| NM_001008503.3:c.-148C>T | NP_001008503.2:n.-148C>T | |
| NM_001008504.4:c.-148C>T | NP_001008504.2:n.-148C>T | |
| NM_001145279.4:c.146-14C>T | NP_001138751.1:n.146-14C>T | |
| NM_001145280.4:c.-11+28379C>T | NP_001138752.1:n.-11+28379C>T | |
| NM_001145281.3:c.47+28838C>T | NP_001138753.1:n.47+28838C>T | |
| NM_001145285.3:c.-148C>T | NP_001138757.1:n.-148C>T | |
| NM_001145286.3:c.-148C>T | NP_001138758.1:n.-148C>T | |
| NM_001285523.3:c.-148C>T | NP_001272452.1:n.-148C>T |