Linked Data
ClinVar Variation Id:
376499
ClinVar RCV Id:
RCV000417995
RCV000419612
RCV000424496
RCV000429893
RCV000428687
RCV000435882
RCV000435208
RCV000440109
dbSNP Id:
rs1057519941
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179203761T>C , CM000665.2:g.179203761T>C | GRCh38 |
| NC_000003.11:g.178921549T>C , CM000665.1:g.178921549T>C | GRCh37 |
| NC_000003.10:g.180404243T>C | NCBI36 |
| NG_012113.2:g.60239T>C , LRG_310:g.60239T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1031T>C MANE Select | ENSP00000263967.3:p.Val344Ala | |
| ENST00000643187.1:c.1031T>C | ENSP00000493507.1:p.Val344Ala | |
| ENST00000674534.1:n.785T>C | ||
| ENST00000675467.1:n.3838T>C | ||
| ENST00000675786.1:c.1031T>C | ENSP00000502323.1:p.Val344Ala | |
| ENST00000263967.3:c.1031T>C | ENSP00000263967.3:p.Val344Ala | |
| NM_006218.2:c.1031T>C , LRG_310t1:c.1031T>C | NP_006209.2:p.Val344Ala | |
| XM_006713658.2:c.1031T>C | XP_006713721.1:p.Val344Ala | |
| XM_011512894.1:c.1031T>C | XP_011511196.1:p.Val344Ala | |
| NM_006218.3:c.1031T>C | NP_006209.2:p.Val344Ala | |
| XM_006713658.4:c.1031T>C | XP_006713721.1:p.Val344Ala | |
| XM_011512894.2:c.1031T>C | XP_011511196.1:p.Val344Ala | |
| NM_006218.4:c.1031T>C MANE Select | NP_006209.2:p.Val344Ala |