Linked Data
ClinVar Variation Id:
2778973
ClinVar RCV Id:
RCV003741393
dbSNP Id:
rs1310825263
gnomAD v3:
16-9938117-G-A
gnomAD v4:
16-9938117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938117G>A , CM000678.2:g.9938117G>A | GRCh38 |
| NC_000016.9:g.10031974G>A , CM000678.1:g.10031974G>A | GRCh37 |
| NC_000016.8:g.9939475G>A | NCBI36 |
| NG_011812.1:g.249638C>T | |
| NG_011812.2:g.249638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.849C>T MANE Select | ENSP00000332549.3:p.Asp283= | |
| ENST00000535259.6:c.378C>T | ENSP00000441572.3:p.Asp126= | |
| ENST00000636273.2:n.442C>T | ||
| ENST00000637393.1:c.441C>T | ENSP00000490232.1:p.Asp147= | |
| ENST00000674742.1:c.378C>T | ENSP00000502200.1:p.Asp126= | |
| ENST00000675189.1:n.1333C>T | ||
| ENST00000675398.1:c.849C>T | ENSP00000502752.1:p.Asp283= | |
| ENST00000330684.3:c.849C>T | ENSP00000332549.3:p.Asp283= | |
| ENST00000396573.6:c.849C>T | ENSP00000379818.2:p.Asp283= | |
| ENST00000396575.6:c.438C>T | ENSP00000379820.3:p.Asp146= | |
| ENST00000461292.3:n.488C>T | ||
| ENST00000535259.5:c.438C>T | ENSP00000441572.2:p.Asp146= | |
| ENST00000562109.5:c.849C>T | ENSP00000454998.1:p.Asp283= | |
| ENST00000566683.1:n.241-47017C>T | ||
| ENST00000568247.3:n.741C>T | ||
| NM_000833.4:c.849C>T | NP_000824.1:p.Asp283= | |
| NM_001134407.2:c.849C>T | NP_001127879.1:p.Asp283= | |
| NM_001134408.2:c.849C>T | NP_001127880.1:p.Asp283= | |
| XM_011522456.1:c.690C>T | XP_011520758.1:p.Asp230= | |
| XM_011522457.1:c.591C>T | XP_011520759.1:p.Asp197= | |
| XM_011522458.1:c.378C>T | XP_011520760.1:p.Asp126= | |
| XM_011522459.1:c.378C>T | XP_011520761.1:p.Asp126= | |
| XM_011522460.1:c.378C>T | XP_011520762.1:p.Asp126= | |
| XM_011522461.1:c.849C>T | XP_011520763.1:p.Asp283= | |
| XM_011522458.3:c.378C>T | XP_011520760.1:p.Asp126= | |
| XM_011522461.3:c.849C>T | XP_011520763.1:p.Asp283= | |
| XM_017023172.1:c.1005C>T | XP_016878661.1:p.Asp335= | |
| XM_017023173.1:c.1005C>T | XP_016878662.1:p.Asp335= | |
| NM_001134407.3:c.849C>T MANE Select | NP_001127879.1:p.Asp283= | |
| NM_000833.5:c.849C>T | NP_000824.1:p.Asp283= |