Linked Data
ClinVar Variation Id:
13664
ClinVar RCV Id:
RCV000014650
RCV000014651
RCV000014652
RCV000224505
RCV000589324
RCV002496362
RCV002276545
RCV004549362
dbSNP Id:
rs121918002
ExAC:
1:21900176 A / C
gnomAD v2:
1-21900176-A-C
gnomAD v3:
1-21573683-A-C
gnomAD v4:
1-21573683-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21573683A>C , CM000663.2:g.21573683A>C | GRCh38 |
| NC_000001.10:g.21900176A>C , CM000663.1:g.21900176A>C | GRCh37 |
| NC_000001.9:g.21772763A>C | NCBI36 |
| NG_008940.1:g.69319A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.881A>C MANE Select | ENSP00000363973.3:p.Asp294Ala | |
| ENST00000374830.2:c.73-2050A>C | ||
| ENST00000374832.5:c.881A>C | ENSP00000363965.1:p.Asp294Ala | |
| ENST00000374840.7:c.881A>C | ENSP00000363973.3:p.Asp294Ala | |
| ENST00000539907.5:c.650A>C | ENSP00000437674.1:p.Asp217Ala | |
| ENST00000540617.5:c.716A>C | ENSP00000442672.1:p.Asp239Ala | |
| NM_000478.4:c.881A>C | NP_000469.3:p.Asp294Ala | |
| NM_001127501.2:c.716A>C | NP_001120973.2:p.Asp239Ala | |
| NM_001177520.1:c.650A>C | NP_001170991.1:p.Asp217Ala | |
| XM_005245818.1:c.881A>C | XP_005245875.1:p.Asp294Ala | |
| XM_005245820.2:c.881A>C | XP_005245877.1:p.Asp294Ala | |
| XM_006710546.1:c.881A>C | XP_006710609.1:p.Asp294Ala | |
| NM_000478.5:c.881A>C | NP_000469.3:p.Asp294Ala | |
| NM_001127501.3:c.716A>C | NP_001120973.2:p.Asp239Ala | |
| NM_001177520.2:c.650A>C | NP_001170991.1:p.Asp217Ala | |
| XM_006710546.3:c.881A>C | XP_006710609.1:p.Asp294Ala | |
| XM_017000903.1:c.725A>C | XP_016856392.1:p.Asp242Ala | |
| NM_000478.6:c.881A>C MANE Select | NP_000469.3:p.Asp294Ala | |
| NM_001127501.4:c.716A>C | NP_001120973.2:p.Asp239Ala | |
| NM_001177520.3:c.650A>C | NP_001170991.1:p.Asp217Ala | |
| NM_001369803.2:c.881A>C | NP_001356732.1:p.Asp294Ala | |
| NM_001369804.2:c.881A>C | NP_001356733.1:p.Asp294Ala | |
| NM_001369805.2:c.881A>C | NP_001356734.1:p.Asp294Ala |