Linked Data
ClinVar Variation Id:
41842
ClinVar RCV Id:
RCV000034773
RCV000123312
RCV000409480
RCV000410572
RCV000562304
RCV000763649
RCV002477060
RCV003387739
dbSNP Id:
rs145170911
ExAC:
10:43615532 G / A
gnomAD v2:
10-43615532-G-A
gnomAD v3:
10-43120084-G-A
gnomAD v4:
10-43120084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43120084G>A , CM000672.2:g.43120084G>A | GRCh38 |
| NC_000010.10:g.43615532G>A , CM000672.1:g.43615532G>A | GRCh37 |
| NC_000010.9:g.42935538G>A | NCBI36 |
| NG_007489.1:g.48016G>A , LRG_518:g.48016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2215G>A | ENSP00000480088.2:p.Val739Ile | |
| ENST00000683007.1:n.2185G>A | ||
| ENST00000683872.1:n.2176G>A | ||
| ENST00000340058.6:c.2611G>A | ENSP00000344798.4:p.Val871Ile | |
| ENST00000355710.8:c.2611G>A MANE Select | ENSP00000347942.3:p.Val871Ile | |
| ENST00000671844.1:c.*1205G>A | ENSP00000500541.1:n.*1205G>A | |
| ENST00000672389.1:c.*1205G>A | ENSP00000500252.1:n.*1205G>A | |
| ENST00000340058.5:c.2611G>A | ENSP00000344798.4:p.Val871Ile | |
| ENST00000355710.7:c.2611G>A | ENSP00000347942.3:p.Val871Ile | |
| ENST00000615310.4:c.1337G>A | ENSP00000480088.1:p.Arg446His | |
| NM_020630.4:c.2611G>A , LRG_518t2:c.2611G>A | NP_065681.1:p.Val871Ile | |
| NM_020975.4:c.2611G>A , LRG_518t1:c.2611G>A | NP_066124.1:p.Val871Ile | |
| XM_011540027.1:c.2611G>A | XP_011538329.1:p.Val871Ile | |
| NM_001355216.1:c.1849G>A | NP_001342145.1:p.Val617Ile | |
| NM_020630.5:c.2611G>A | NP_065681.1:p.Val871Ile | |
| NM_020975.5:c.2611G>A | NP_066124.1:p.Val871Ile | |
| NM_020975.6:c.2611G>A MANE Select | NP_066124.1:p.Val871Ile | |
| NM_020630.6:c.2611G>A | NP_065681.1:p.Val871Ile |