Linked Data
ClinVar Variation Id:
523227
ClinVar RCV Id:
RCV000626475
dbSNP Id:
rs1554359569
gnomAD v4:
7-90271861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.90271861C>T , CM000669.2:g.90271861C>T | GRCh38 |
| NC_000007.13:g.89901175C>T , CM000669.1:g.89901175C>T | GRCh37 |
| NC_000007.12:g.89739111C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389297.8:c.763C>T MANE Select | ENSP00000373948.4:p.Gln255Ter | |
| ENST00000418199.1:c.168C>T | ||
| ENST00000427396.5:c.*326C>T | ENSP00000411143.1:n.*326C>T | |
| ENST00000451029.5:c.682+186C>T | ENSP00000411234.1:n.682+186C>T | |
| ENST00000457170.6:c.583C>T | ENSP00000392365.2:p.Gln195Ter | |
| ENST00000463311.1:n.676+186C>T | ||
| ENST00000497910.5:c.709C>T | ENSP00000419549.1:p.Gln237Ter | |
| NM_001039706.2:c.763C>T | NP_001034795.2:p.Gln255Ter | |
| NM_001160138.1:c.709C>T | NP_001153610.1:p.Gln237Ter | |
| XM_005250600.2:c.763C>T | XP_005250657.1:p.Gln255Ter | |
| XM_011516576.1:c.763C>T | XP_011514878.1:p.Gln255Ter | |
| XM_011516577.1:c.763C>T | XP_011514879.1:p.Gln255Ter | |
| XM_011516578.1:c.763C>T | XP_011514880.1:p.Gln255Ter | |
| XM_011516579.1:c.763C>T | XP_011514881.1:p.Gln255Ter | |
| XR_242264.2:n.993C>T | ||
| XR_927530.1:n.993C>T | ||
| XR_927531.1:n.993C>T | ||
| XR_927532.1:n.993C>T | ||
| XR_927533.1:n.993C>T | ||
| NM_001363438.1:c.763C>T | NP_001350367.1:p.Gln255Ter | |
| XM_005250600.3:c.763C>T | XP_005250657.1:p.Gln255Ter | |
| XM_011516577.2:c.763C>T | XP_011514879.1:p.Gln255Ter | |
| XM_011516578.2:c.763C>T | XP_011514880.1:p.Gln255Ter | |
| XM_017012624.1:c.709C>T | XP_016868113.1:p.Gln237Ter | |
| XM_017012625.1:c.763C>T | XP_016868114.1:p.Gln255Ter | |
| XM_017012626.1:c.763C>T | XP_016868115.1:p.Gln255Ter | |
| XM_017012627.1:c.763C>T | XP_016868116.1:p.Gln255Ter | |
| XM_017012628.1:c.763C>T | XP_016868117.1:p.Gln255Ter | |
| XM_017012629.1:c.544C>T | XP_016868118.1:p.Gln182Ter | |
| XM_017012631.1:c.475C>T | XP_016868120.1:p.Gln159Ter | |
| XM_017012632.1:c.763C>T | XP_016868121.1:p.Gln255Ter | |
| XM_017012633.2:c.322C>T | XP_016868122.1:p.Gln108Ter | |
| XM_017012634.1:c.322C>T | XP_016868123.1:p.Gln108Ter | |
| XM_017012635.2:c.322C>T | XP_016868124.1:p.Gln108Ter | |
| XM_017012636.1:c.322C>T | XP_016868125.1:p.Gln108Ter | |
| XM_017012637.1:c.268C>T | XP_016868126.1:p.Gln90Ter | |
| XM_017012638.1:c.268C>T | XP_016868127.1:p.Gln90Ter | |
| XM_017012639.1:c.268C>T | XP_016868128.1:p.Gln90Ter | |
| XM_017012640.1:c.-32+186C>T | XP_016868129.1:n.-32+186C>T | |
| XM_017012641.1:c.763C>T | XP_016868130.1:p.Gln255Ter | |
| XM_017012642.1:c.763C>T | XP_016868131.1:p.Gln255Ter | |
| XR_001744876.1:n.3564C>T | ||
| XR_927531.2:n.993C>T | ||
| NM_001039706.3:c.763C>T MANE Select | NP_001034795.2:p.Gln255Ter | |
| NM_001160138.2:c.709C>T | NP_001153610.1:p.Gln237Ter |