Linked Data
ClinVar Variation Id:
38613
ClinVar RCV Id:
RCV000021853
RCV000419916
RCV000425568
RCV000426266
RCV000436948
RCV000437130
RCV000479688
RCV002453279
RCV003226171
dbSNP Id:
rs79658334
gnomAD v4:
10-43119548-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119548G>C , CM000672.2:g.43119548G>C | GRCh38 |
| NC_000010.10:g.43614996G>C , CM000672.1:g.43614996G>C | GRCh37 |
| NC_000010.9:g.42935002G>C | NCBI36 |
| NG_007489.1:g.47480G>C , LRG_518:g.47480G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2014G>C | ENSP00000480088.2:p.Val672Leu | |
| ENST00000683007.1:n.1984G>C | ||
| ENST00000683872.1:n.1975G>C | ||
| ENST00000340058.6:c.2410G>C | ENSP00000344798.4:p.Val804Leu | |
| ENST00000355710.8:c.2410G>C MANE Select | ENSP00000347942.3:p.Val804Leu | |
| ENST00000671844.1:c.*1004G>C | ENSP00000500541.1:n.*1004G>C | |
| ENST00000672389.1:c.*1004G>C | ENSP00000500252.1:n.*1004G>C | |
| ENST00000340058.5:c.2410G>C | ENSP00000344798.4:p.Val804Leu | |
| ENST00000355710.7:c.2410G>C | ENSP00000347942.3:p.Val804Leu | |
| ENST00000615310.4:c.1290-154G>C | ENSP00000480088.1:n.1290-154G>C | |
| NM_020630.4:c.2410G>C , LRG_518t2:c.2410G>C | NP_065681.1:p.Val804Leu | |
| NM_020975.4:c.2410G>C , LRG_518t1:c.2410G>C | NP_066124.1:p.Val804Leu | |
| XM_011540027.1:c.2410G>C | XP_011538329.1:p.Val804Leu | |
| NM_001355216.1:c.1648G>C | NP_001342145.1:p.Val550Leu | |
| NM_020630.5:c.2410G>C | NP_065681.1:p.Val804Leu | |
| NM_020975.5:c.2410G>C | NP_066124.1:p.Val804Leu | |
| NM_020975.6:c.2410G>C MANE Select | NP_066124.1:p.Val804Leu | |
| NM_020630.6:c.2410G>C | NP_065681.1:p.Val804Leu |