Linked Data
ClinVar Variation Id:
13671
ClinVar RCV Id:
RCV000014662
RCV000014661
RCV000224520
RCV000207084
RCV000763302
RCV001847606
RCV004549364
dbSNP Id:
rs121918008
gnomAD v2:
1-21902361-A-T
gnomAD v3:
1-21575868-A-T
gnomAD v4:
1-21575868-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21575868A>T , CM000663.2:g.21575868A>T | GRCh38 |
| NC_000001.10:g.21902361A>T , CM000663.1:g.21902361A>T | GRCh37 |
| NC_000001.9:g.21774948A>T | NCBI36 |
| NG_008940.1:g.71504A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.1133A>T MANE Select | ENSP00000363973.3:p.Asp378Val | |
| ENST00000374829.2:n.402A>T | ||
| ENST00000374830.2:c.208A>T | ||
| ENST00000374832.5:c.1133A>T | ENSP00000363965.1:p.Asp378Val | |
| ENST00000374840.7:c.1133A>T | ENSP00000363973.3:p.Asp378Val | |
| ENST00000539907.5:c.902A>T | ENSP00000437674.1:p.Asp301Val | |
| ENST00000540617.5:c.968A>T | ENSP00000442672.1:p.Asp323Val | |
| NM_000478.4:c.1133A>T | NP_000469.3:p.Asp378Val | |
| NM_001127501.2:c.968A>T | NP_001120973.2:p.Asp323Val | |
| NM_001177520.1:c.902A>T | NP_001170991.1:p.Asp301Val | |
| XM_005245818.1:c.1133A>T | XP_005245875.1:p.Asp378Val | |
| XM_006710546.1:c.1133A>T | XP_006710609.1:p.Asp378Val | |
| NM_000478.5:c.1133A>T | NP_000469.3:p.Asp378Val | |
| NM_001127501.3:c.968A>T | NP_001120973.2:p.Asp323Val | |
| NM_001177520.2:c.902A>T | NP_001170991.1:p.Asp301Val | |
| XM_006710546.3:c.1133A>T | XP_006710609.1:p.Asp378Val | |
| XM_017000903.1:c.977A>T | XP_016856392.1:p.Asp326Val | |
| NM_000478.6:c.1133A>T MANE Select | NP_000469.3:p.Asp378Val | |
| NM_001127501.4:c.968A>T | NP_001120973.2:p.Asp323Val | |
| NM_001177520.3:c.902A>T | NP_001170991.1:p.Asp301Val | |
| NM_001369803.2:c.1133A>T | NP_001356732.1:p.Asp378Val | |
| NM_001369804.2:c.1133A>T | NP_001356733.1:p.Asp378Val | |
| NM_001369805.2:c.1133A>T | NP_001356734.1:p.Asp378Val |