Linked Data
ClinVar Variation Id:
1802664
ClinVar RCV Id:
RCV002465951
dbSNP Id:
rs1064796993
gnomAD v2:
7-44192971-C-T
gnomAD v4:
7-44153372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153372C>T , CM000669.2:g.44153372C>T | GRCh38 |
| NC_000007.13:g.44192971C>T , CM000669.1:g.44192971C>T | GRCh37 |
| NC_000007.12:g.44159496C>T | NCBI36 |
| NG_008847.1:g.41052G>A | |
| NG_008847.2:g.49799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*135G>A | ENSP00000379142.4:n.*135G>A | |
| ENST00000616242.5:c.137G>A | ENSP00000482149.2:p.Arg46Lys | |
| ENST00000682635.1:n.623G>A | ||
| ENST00000345378.7:c.140G>A | ENSP00000223366.2:p.Arg47Lys | |
| ENST00000403799.8:c.137G>A MANE Select | ENSP00000384247.3:p.Arg46Lys | |
| ENST00000671824.1:c.137G>A | ENSP00000500264.1:p.Arg46Lys | |
| ENST00000673284.1:c.137G>A | ENSP00000499852.1:p.Arg46Lys | |
| ENST00000345378.6:c.140G>A | ENSP00000223366.2:p.Arg47Lys | |
| ENST00000395796.7:c.134G>A | ENSP00000379142.3:p.Arg45Lys | |
| ENST00000403799.7:c.137G>A | ENSP00000384247.3:p.Arg46Lys | |
| ENST00000437084.1:c.137G>A | ENSP00000402840.1:p.Arg46Lys | |
| ENST00000616242.4:c.134G>A | ENSP00000482149.1:p.Arg45Lys | |
| NM_000162.3:c.137G>A | NP_000153.1:p.Arg46Lys | |
| NM_033507.1:c.140G>A | NP_277042.1:p.Arg47Lys | |
| NM_033508.1:c.134G>A | NP_277043.1:p.Arg45Lys | |
| NM_000162.4:c.137G>A | NP_000153.1:p.Arg46Lys | |
| NM_001354800.1:c.137G>A | NP_001341729.1:p.Arg46Lys | |
| NM_033507.2:c.140G>A | NP_277042.1:p.Arg47Lys | |
| NM_033508.2:c.134G>A | NP_277043.1:p.Arg45Lys | |
| NM_000162.5:c.137G>A MANE Select | NP_000153.1:p.Arg46Lys | |
| NM_033507.3:c.140G>A | NP_277042.1:p.Arg47Lys | |
| NM_033508.3:c.134G>A | NP_277043.1:p.Arg45Lys |