Linked Data
ClinVar Variation Id:
393398
ClinVar RCV Id:
RCV000445551
dbSNP Id:
rs193922325
gnomAD v4:
7-44153435-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153435A>T , CM000669.2:g.44153435A>T | GRCh38 |
| NC_000007.13:g.44193034A>T , CM000669.1:g.44193034A>T | GRCh37 |
| NC_000007.12:g.44159559A>T | NCBI36 |
| NG_008847.1:g.40989T>A | |
| NG_008847.2:g.49736T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*72T>A | ENSP00000379142.4:n.*72T>A | |
| ENST00000616242.5:c.74T>A | ENSP00000482149.2:p.Leu25Gln | |
| ENST00000682635.1:n.560T>A | ||
| ENST00000345378.7:c.77T>A | ENSP00000223366.2:p.Leu26Gln | |
| ENST00000403799.8:c.74T>A MANE Select | ENSP00000384247.3:p.Leu25Gln | |
| ENST00000671824.1:c.74T>A | ENSP00000500264.1:p.Leu25Gln | |
| ENST00000673284.1:c.74T>A | ENSP00000499852.1:p.Leu25Gln | |
| ENST00000345378.6:c.77T>A | ENSP00000223366.2:p.Leu26Gln | |
| ENST00000395796.7:c.71T>A | ENSP00000379142.3:p.Leu24Gln | |
| ENST00000403799.7:c.74T>A | ENSP00000384247.3:p.Leu25Gln | |
| ENST00000437084.1:c.74T>A | ENSP00000402840.1:p.Leu25Gln | |
| ENST00000476008.1:n.509T>A | ||
| ENST00000616242.4:c.71T>A | ENSP00000482149.1:p.Leu24Gln | |
| NM_000162.3:c.74T>A | NP_000153.1:p.Leu25Gln | |
| NM_033507.1:c.77T>A | NP_277042.1:p.Leu26Gln | |
| NM_033508.1:c.71T>A | NP_277043.1:p.Leu24Gln | |
| NM_000162.4:c.74T>A | NP_000153.1:p.Leu25Gln | |
| NM_001354800.1:c.74T>A | NP_001341729.1:p.Leu25Gln | |
| NM_033507.2:c.77T>A | NP_277042.1:p.Leu26Gln | |
| NM_033508.2:c.71T>A | NP_277043.1:p.Leu24Gln | |
| NM_000162.5:c.74T>A MANE Select | NP_000153.1:p.Leu25Gln | |
| NM_033507.3:c.77T>A | NP_277042.1:p.Leu26Gln | |
| NM_033508.3:c.71T>A | NP_277043.1:p.Leu24Gln |