Linked Data
ClinVar Variation Id:
41845
ClinVar RCV Id:
RCV000034777
RCV000123327
RCV000148775
RCV000223157
RCV000573525
RCV000663296
RCV001104177
RCV001103898
RCV001103896
RCV001103897
RCV001269367
RCV004528165
dbSNP Id:
rs139790943
ExAC:
10:43600559 T / C
gnomAD v2:
10-43600559-T-C
gnomAD v3:
10-43105111-T-C
gnomAD v4:
10-43105111-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43105111T>C , CM000672.2:g.43105111T>C | GRCh38 |
| NC_000010.10:g.43600559T>C , CM000672.1:g.43600559T>C | GRCh37 |
| NC_000010.9:g.42920565T>C | NCBI36 |
| NG_007489.1:g.33043T>C , LRG_518:g.33043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.785T>C | ENSP00000480088.2:p.Val262Ala | |
| ENST00000683007.1:n.359T>C | ||
| ENST00000340058.6:c.785T>C | ENSP00000344798.4:p.Val262Ala | |
| ENST00000355710.8:c.785T>C MANE Select | ENSP00000347942.3:p.Val262Ala | |
| ENST00000671844.1:c.625+2482T>C | ENSP00000500541.1:n.625+2482T>C | |
| ENST00000672389.1:c.74-6096T>C | ENSP00000500252.1:n.74-6096T>C | |
| ENST00000340058.5:c.785T>C | ENSP00000344798.4:p.Val262Ala | |
| ENST00000355710.7:c.785T>C | ENSP00000347942.3:p.Val262Ala | |
| ENST00000479913.1:n.380T>C | ||
| ENST00000498820.5:c.74-6988T>C | ENSP00000419080.1:n.74-6988T>C | |
| ENST00000615310.4:c.785T>C | ENSP00000480088.1:p.Val262Ala | |
| NM_020630.4:c.785T>C , LRG_518t2:c.785T>C | NP_065681.1:p.Val262Ala | |
| NM_020975.4:c.785T>C , LRG_518t1:c.785T>C | NP_066124.1:p.Val262Ala | |
| XM_011540027.1:c.785T>C | XP_011538329.1:p.Val262Ala | |
| NM_001355216.1:c.23T>C | NP_001342145.1:p.Val8Ala | |
| NM_020630.5:c.785T>C | NP_065681.1:p.Val262Ala | |
| NM_020975.5:c.785T>C | NP_066124.1:p.Val262Ala | |
| NM_020975.6:c.785T>C MANE Select | NP_066124.1:p.Val262Ala | |
| NM_020630.6:c.785T>C | NP_065681.1:p.Val262Ala |