Linked Data
ClinVar Variation Id:
36224
dbSNP Id:
rs193922302
ERepo:
CA213792/MONDO:0015967/086
PubMed:
PMID:19564454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44150956C>T , CM000669.2:g.44150956C>T | GRCh38 |
| NC_000007.13:g.44190555C>T , CM000669.1:g.44190555C>T | GRCh37 |
| NC_000007.12:g.44157080C>T | NCBI36 |
| NG_008847.1:g.43468G>A | |
| NG_008847.2:g.52215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*481G>A | ENSP00000379142.4:n.*481G>A | |
| ENST00000616242.5:c.483G>A | ENSP00000482149.2:p.Lys161= | |
| ENST00000682635.1:n.969G>A | ||
| ENST00000345378.7:c.486G>A | ENSP00000223366.2:p.Lys162= | |
| ENST00000403799.8:c.483G>A MANE Select | ENSP00000384247.3:p.Lys161= | |
| ENST00000671824.1:c.483G>A | ENSP00000500264.1:p.Lys161= | |
| ENST00000673284.1:c.483G>A | ENSP00000499852.1:p.Lys161= | |
| ENST00000345378.6:c.486G>A | ENSP00000223366.2:p.Lys162= | |
| ENST00000395796.7:c.480G>A | ENSP00000379142.3:p.Lys160= | |
| ENST00000403799.7:c.483G>A | ENSP00000384247.3:p.Lys161= | |
| ENST00000437084.1:c.432G>A | ENSP00000402840.1:p.Lys144= | |
| ENST00000616242.4:c.480G>A | ENSP00000482149.1:p.Lys160= | |
| NM_000162.3:c.483G>A | NP_000153.1:p.Lys161= | |
| NM_033507.1:c.486G>A | NP_277042.1:p.Lys162= | |
| NM_033508.1:c.480G>A | NP_277043.1:p.Lys160= | |
| NM_000162.4:c.483G>A | NP_000153.1:p.Lys161= | |
| NM_001354800.1:c.483G>A | NP_001341729.1:p.Lys161= | |
| NM_033507.2:c.486G>A | NP_277042.1:p.Lys162= | |
| NM_033508.2:c.480G>A | NP_277043.1:p.Lys160= | |
| NM_000162.5:c.483G>A MANE Select | NP_000153.1:p.Lys161= | |
| NM_033507.3:c.486G>A | NP_277042.1:p.Lys162= | |
| NM_033508.3:c.480G>A | NP_277043.1:p.Lys160= |