Linked Data
ClinVar Variation Id:
48307
ClinVar RCV Id:
RCV000041627
RCV000243623
RCV000302171
RCV000335948
RCV000341786
RCV000347752
RCV000371957
RCV000390614
RCV000713147
RCV001094902
dbSNP Id:
rs1805126
ExAC:
3:38592406 A / G
gnomAD v2:
3-38592406-A-G
gnomAD v3:
3-38550915-A-G
gnomAD v4:
3-38550915-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550915A>G , CM000665.2:g.38550915A>G | GRCh38 |
| NC_000003.11:g.38592406A>G , CM000665.1:g.38592406A>G | GRCh37 |
| NC_000003.10:g.38567410A>G | NCBI36 |
| NG_008934.1:g.103758T>C , LRG_289:g.103758T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327956.7:c.5454T>C | ENSP00000333674.7:p.Asp1818= | |
| ENST00000333535.9:c.5457T>C | ENSP00000328968.4:p.Asp1819= | |
| ENST00000413689.6:c.5457T>C MANE Plus Clinical | ENSP00000410257.1:p.Asp1819= | |
| ENST00000423572.7:c.5454T>C MANE Select | ENSP00000398266.2:p.Asp1818= | |
| ENST00000333535.8:c.5457T>C | ENSP00000328968.4:p.Asp1819= | |
| ENST00000413689.5:c.5457T>C | ENSP00000410257.1:p.Asp1819= | |
| ENST00000414099.6:c.5403T>C | ENSP00000398962.2:p.Asp1801= | |
| ENST00000423572.6:c.5454T>C | ENSP00000398266.2:p.Asp1818= | |
| ENST00000425664.5:c.5403T>C | ENSP00000416634.1:p.Asp1801= | |
| ENST00000449557.6:c.5295T>C | ENSP00000413996.2:p.Asp1765= | |
| ENST00000450102.6:c.5295T>C | ENSP00000403355.2:p.Asp1765= | |
| ENST00000451551.6:c.5295T>C | ENSP00000388797.2:p.Asp1765= | |
| ENST00000455624.6:c.5358T>C | ENSP00000399524.2:p.Asp1786= | |
| NM_000335.4:c.5454T>C , LRG_289t2:c.5454T>C | NP_000326.2:p.Asp1818= | |
| NM_001099404.1:c.5457T>C , LRG_289t3:c.5457T>C | NP_001092874.1:p.Asp1819= | |
| NM_001099405.1:c.5403T>C | NP_001092875.1:p.Asp1801= | |
| NM_001160160.1:c.5358T>C | NP_001153632.1:p.Asp1786= | |
| NM_001160161.1:c.5295T>C | NP_001153633.1:p.Asp1765= | |
| NM_198056.2:c.5457T>C , LRG_289t1:c.5457T>C | NP_932173.1:p.Asp1819= | |
| XM_006713282.2:c.5457T>C | XP_006713345.1:p.Asp1819= | |
| XM_011533991.1:c.5454T>C | XP_011532293.1:p.Asp1818= | |
| XM_011533992.1:c.5328T>C | XP_011532294.1:p.Asp1776= | |
| NM_001354701.1:c.5400T>C | NP_001341630.1:p.Asp1800= | |
| XM_011533991.2:c.5454T>C | XP_011532293.1:p.Asp1818= | |
| XM_017007017.1:c.5295T>C | XP_016862506.1:p.Asp1765= | |
| NM_000335.5:c.5454T>C MANE Select | NP_000326.2:p.Asp1818= | |
| NM_001160160.2:c.5358T>C | NP_001153632.1:p.Asp1786= | |
| NM_001354701.2:c.5400T>C | NP_001341630.1:p.Asp1800= | |
| NM_001099404.2:c.5457T>C MANE Plus Clinical | NP_001092874.1:p.Asp1819= | |
| NM_001099405.2:c.5403T>C | NP_001092875.1:p.Asp1801= | |
| NM_001160161.2:c.5295T>C | NP_001153633.1:p.Asp1765= | |
| NM_198056.3:c.5457T>C | NP_932173.1:p.Asp1819= |