Linked Data
ClinVar Variation Id:
1256352
ClinVar RCV Id:
RCV001663694
dbSNP Id:
rs773582328
ExAC:
7:44186091 G / A
gnomAD v2:
7-44186091-G-A
gnomAD v4:
7-44146492-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146492G>A , CM000669.2:g.44146492G>A | GRCh38 |
| NC_000007.13:g.44186091G>A , CM000669.1:g.44186091G>A | GRCh37 |
| NC_000007.12:g.44152616G>A | NCBI36 |
| NG_008847.1:g.47932C>T | |
| NG_008847.2:g.56679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*988C>T | ENSP00000379142.4:n.*988C>T | |
| ENST00000616242.5:c.*110C>T | ENSP00000482149.2:n.*110C>T | |
| ENST00000683378.1:n.216C>T | ||
| ENST00000345378.7:c.993C>T | ENSP00000223366.2:p.Phe331= | |
| ENST00000403799.8:c.990C>T MANE Select | ENSP00000384247.3:p.Phe330= | |
| ENST00000671824.1:c.1053C>T | ENSP00000500264.1:p.Phe351= | |
| ENST00000673284.1:c.990C>T | ENSP00000499852.1:p.Phe330= | |
| ENST00000345378.6:c.993C>T | ENSP00000223366.2:p.Phe331= | |
| ENST00000395796.7:c.987C>T | ENSP00000379142.3:p.Phe329= | |
| ENST00000403799.7:c.990C>T | ENSP00000384247.3:p.Phe330= | |
| ENST00000437084.1:c.939C>T | ENSP00000402840.1:p.Phe313= | |
| ENST00000473353.1:n.288C>T | ||
| ENST00000616242.4:c.987C>T | ENSP00000482149.1:p.Phe329= | |
| NM_000162.3:c.990C>T | NP_000153.1:p.Phe330= | |
| NM_033507.1:c.993C>T | NP_277042.1:p.Phe331= | |
| NM_033508.1:c.987C>T | NP_277043.1:p.Phe329= | |
| NM_000162.4:c.990C>T | NP_000153.1:p.Phe330= | |
| NM_001354800.1:c.990C>T | NP_001341729.1:p.Phe330= | |
| NM_001354801.1:c.8+127C>T | NP_001341730.1:n.8+127C>T | |
| NM_033507.2:c.993C>T | NP_277042.1:p.Phe331= | |
| NM_033508.2:c.987C>T | NP_277043.1:p.Phe329= | |
| NM_000162.5:c.990C>T MANE Select | NP_000153.1:p.Phe330= | |
| NM_033507.3:c.993C>T | NP_277042.1:p.Phe331= | |
| NM_033508.3:c.987C>T | NP_277043.1:p.Phe329= |