Linked Data
ClinVar Variation Id:
9377
ClinVar RCV Id:
RCV000009974
RCV000009972
RCV000009973
RCV000058773
RCV000208193
RCV000183117
RCV000245905
RCV000588022
RCV000824758
RCV004545722
RCV003591625
dbSNP Id:
rs137854601
gnomAD v3:
3-38551022-C-T
gnomAD v4:
3-38551022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38551022C>T , CM000665.2:g.38551022C>T | GRCh38 |
| NC_000003.11:g.38592513C>T , CM000665.1:g.38592513C>T | GRCh37 |
| NC_000003.10:g.38567517C>T | NCBI36 |
| NG_008934.1:g.103651G>A , LRG_289:g.103651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5347G>A | ENSP00000333674.7:p.Glu1783Lys | |
| ENST00000333535.9:c.5350G>A | ENSP00000328968.4:p.Glu1784Lys | |
| ENST00000413689.6:c.5350G>A MANE Plus Clinical | ENSP00000410257.1:p.Glu1784Lys | |
| ENST00000423572.7:c.5347G>A MANE Select | ENSP00000398266.2:p.Glu1783Lys | |
| ENST00000333535.8:c.5350G>A | ENSP00000328968.4:p.Glu1784Lys | |
| ENST00000413689.5:c.5350G>A | ENSP00000410257.1:p.Glu1784Lys | |
| ENST00000414099.6:c.5296G>A | ENSP00000398962.2:p.Glu1766Lys | |
| ENST00000423572.6:c.5347G>A | ENSP00000398266.2:p.Glu1783Lys | |
| ENST00000425664.5:c.5296G>A | ENSP00000416634.1:p.Glu1766Lys | |
| ENST00000449557.6:c.5188G>A | ENSP00000413996.2:p.Glu1730Lys | |
| ENST00000450102.6:c.5188G>A | ENSP00000403355.2:p.Glu1730Lys | |
| ENST00000451551.6:c.5188G>A | ENSP00000388797.2:p.Glu1730Lys | |
| ENST00000455624.6:c.5251G>A | ENSP00000399524.2:p.Glu1751Lys | |
| NM_000335.4:c.5347G>A , LRG_289t2:c.5347G>A | NP_000326.2:p.Glu1783Lys | |
| NM_001099404.1:c.5350G>A , LRG_289t3:c.5350G>A | NP_001092874.1:p.Glu1784Lys | |
| NM_001099405.1:c.5296G>A | NP_001092875.1:p.Glu1766Lys | |
| NM_001160160.1:c.5251G>A | NP_001153632.1:p.Glu1751Lys | |
| NM_001160161.1:c.5188G>A | NP_001153633.1:p.Glu1730Lys | |
| NM_198056.2:c.5350G>A , LRG_289t1:c.5350G>A | NP_932173.1:p.Glu1784Lys | |
| XM_006713282.2:c.5350G>A | XP_006713345.1:p.Glu1784Lys | |
| XM_011533991.1:c.5347G>A | XP_011532293.1:p.Glu1783Lys | |
| XM_011533992.1:c.5221G>A | XP_011532294.1:p.Glu1741Lys | |
| NM_001354701.1:c.5293G>A | NP_001341630.1:p.Glu1765Lys | |
| XM_011533991.2:c.5347G>A | XP_011532293.1:p.Glu1783Lys | |
| XM_017007017.1:c.5188G>A | XP_016862506.1:p.Glu1730Lys | |
| NM_000335.5:c.5347G>A MANE Select | NP_000326.2:p.Glu1783Lys | |
| NM_001160160.2:c.5251G>A | NP_001153632.1:p.Glu1751Lys | |
| NM_001354701.2:c.5293G>A | NP_001341630.1:p.Glu1765Lys | |
| NM_001099404.2:c.5350G>A MANE Plus Clinical | NP_001092874.1:p.Glu1784Lys | |
| NM_001099405.2:c.5296G>A | NP_001092875.1:p.Glu1766Lys | |
| NM_001160161.2:c.5188G>A | NP_001153633.1:p.Glu1730Lys | |
| NM_198056.3:c.5350G>A | NP_932173.1:p.Glu1784Lys |