Linked Data
ClinVar Variation Id:
224824
ClinVar RCV Id:
RCV000210392
dbSNP Id:
rs144959805
ExAC:
1:147131611 C / T
gnomAD v2:
1-147131611-C-T
gnomAD v3:
1-147659496-C-T
gnomAD v4:
1-147659496-C-T
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147659496C>T , CM000663.2:g.147659496C>T | GRCh38 |
| NC_000001.10:g.147131611C>T , CM000663.1:g.147131611C>T | GRCh37 |
| NC_000001.9:g.145598235C>T | NCBI36 |
| NG_050757.1:g.16048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583509.7:c.379G>A MANE Select | ENSP00000463574.1:p.Val127Met | |
| ENST00000392988.6:c.250G>A | ENSP00000376714.3:p.Val84Met | |
| ENST00000487562.5:c.379G>A | ENSP00000481777.1:p.Val127Met | |
| ENST00000493129.2:c.226G>A | ENSP00000479906.1:p.Val76Met | |
| ENST00000583509.6:c.379G>A | ENSP00000463574.1:p.Val127Met | |
| ENST00000611629.4:c.62G>A | ||
| ENST00000613673.4:n.614G>A | ||
| ENST00000620634.4:c.220-457G>A | ENSP00000480100.1:n.220-457G>A | |
| NM_016361.4:c.379G>A | NP_057445.4:p.Val127Met | |
| XM_011509601.1:c.379G>A | XP_011507903.1:p.Val127Met | |
| XR_921820.1:n.799G>A | ||
| NM_001323625.1:c.379G>A | NP_001310554.1:p.Val127Met | |
| NR_136633.1:n.874G>A | ||
| NR_136634.1:n.1194G>A | ||
| NR_136635.1:n.874G>A | ||
| NR_136636.1:n.1194G>A | ||
| XM_011509601.3:c.379G>A | XP_011507903.1:p.Val127Met | |
| XM_017001422.2:c.379G>A | XP_016856911.1:p.Val127Met | |
| XM_024447500.1:c.25G>A | XP_024303268.1:p.Val9Met | |
| NM_016361.5:c.379G>A MANE Select | NP_057445.4:p.Val127Met | |
| NM_001323625.2:c.379G>A | NP_001310554.1:p.Val127Met | |
| NR_136633.2:n.855G>A | ||
| NR_136634.2:n.1175G>A | ||
| NR_136635.2:n.855G>A | ||
| NR_136636.2:n.1175G>A |