Linked Data
ClinVar Variation Id:
13931
ClinVar RCV Id:
RCV000014956
RCV000021842
RCV000431893
RCV000432579
RCV000421871
RCV000439063
RCV000445341
RCV000426010
RCV001015022
RCV002280861
RCV001811141
dbSNP Id:
rs78014899
gnomAD v4:
10-43118392-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118392G>C , CM000672.2:g.43118392G>C | GRCh38 |
| NC_000010.10:g.43613840G>C , CM000672.1:g.43613840G>C | GRCh37 |
| NC_000010.9:g.42933846G>C | NCBI36 |
| NG_007489.1:g.46324G>C , LRG_518:g.46324G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1908G>C | ENSP00000480088.2:p.Glu636Asp | |
| ENST00000683007.1:n.1878G>C | ||
| ENST00000683872.1:n.1869G>C | ||
| ENST00000340058.6:c.2304G>C | ENSP00000344798.4:p.Glu768Asp | |
| ENST00000355710.8:c.2304G>C MANE Select | ENSP00000347942.3:p.Glu768Asp | |
| ENST00000671844.1:c.*898G>C | ENSP00000500541.1:n.*898G>C | |
| ENST00000672389.1:c.*898G>C | ENSP00000500252.1:n.*898G>C | |
| ENST00000340058.5:c.2304G>C | ENSP00000344798.4:p.Glu768Asp | |
| ENST00000355710.7:c.2304G>C | ENSP00000347942.3:p.Glu768Asp | |
| ENST00000615310.4:c.1290-1310G>C | ENSP00000480088.1:n.1290-1310G>C | |
| NM_020630.4:c.2304G>C , LRG_518t2:c.2304G>C | NP_065681.1:p.Glu768Asp | |
| NM_020975.4:c.2304G>C , LRG_518t1:c.2304G>C | NP_066124.1:p.Glu768Asp | |
| XM_011540027.1:c.2304G>C | XP_011538329.1:p.Glu768Asp | |
| NM_001355216.1:c.1542G>C | NP_001342145.1:p.Glu514Asp | |
| NM_020630.5:c.2304G>C | NP_065681.1:p.Glu768Asp | |
| NM_020975.5:c.2304G>C | NP_066124.1:p.Glu768Asp | |
| NM_020975.6:c.2304G>C MANE Select | NP_066124.1:p.Glu768Asp | |
| NM_020630.6:c.2304G>C | NP_065681.1:p.Glu768Asp |