Linked Data
ClinVar Variation Id:
1480325
ClinVar RCV Id:
RCV002022038
dbSNP Id:
rs750135200
ExAC:
1:186099194 T / C
gnomAD v2:
1-186099194-T-C
gnomAD v4:
1-186130062-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186130062T>C , CM000663.2:g.186130062T>C | GRCh38 |
| NC_000001.10:g.186099194T>C , CM000663.1:g.186099194T>C | GRCh37 |
| NC_000001.9:g.184365817T>C | NCBI36 |
| NG_011841.1:g.400512T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.13001T>C MANE Select | ENSP00000271588.4:p.Val4334Ala | |
| ENST00000271588.8:c.13001T>C | ENSP00000271588.4:p.Val4334Ala | |
| NM_031935.2:c.13001T>C | NP_114141.2:p.Val4334Ala | |
| XM_011510037.1:c.12716T>C | XP_011508339.1:p.Val4239Ala | |
| XM_011510038.1:c.13001T>C | XP_011508340.1:p.Val4334Ala | |
| XM_011510039.1:c.13001T>C | XP_011508341.1:p.Val4334Ala | |
| XM_011510038.3:c.13001T>C | XP_011508340.1:p.Val4334Ala | |
| XM_017002437.1:c.11024T>C | XP_016857926.1:p.Val3675Ala | |
| NM_031935.3:c.13001T>C MANE Select | NP_114141.2:p.Val4334Ala |