Linked Data
ClinVar Variation Id:
431433
ClinVar RCV Id:
RCV000496990
dbSNP Id:
rs1135402755
gnomAD v4:
3-138103509-G-A
PubMed:
PMID:28530676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138103509G>A , CM000665.2:g.138103509G>A | GRCh38 |
| NC_000003.11:g.137822351G>A , CM000665.1:g.137822351G>A | GRCh37 |
| NC_000003.10:g.139305041G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327532.7:c.463C>T MANE Select | ENSP00000332148.2:p.Gln155Ter | |
| ENST00000327532.6:c.463C>T | ENSP00000332148.2:p.Gln155Ter | |
| ENST00000469243.5:c.463C>T | ENSP00000419486.1:p.Gln155Ter | |
| ENST00000490472.1:n.270C>T | ||
| NM_001170538.1:c.463C>T | NP_001164009.1:p.Gln155Ter | |
| NM_173543.2:c.463C>T | NP_775814.2:p.Gln155Ter | |
| XM_005247198.2:c.547C>T | XP_005247255.1:p.Gln183Ter | |
| XM_006713526.1:c.463C>T | XP_006713589.1:p.Gln155Ter | |
| XM_006713527.2:c.463C>T | XP_006713590.1:p.Gln155Ter | |
| XM_011512518.1:c.547C>T | XP_011510820.1:p.Gln183Ter | |
| XM_011512519.1:c.547C>T | XP_011510821.1:p.Gln183Ter | |
| XM_011512520.1:c.463C>T | XP_011510822.1:p.Gln155Ter | |
| XM_011512521.1:c.463C>T | XP_011510823.1:p.Gln155Ter | |
| XM_011512522.1:c.463C>T | XP_011510824.1:p.Gln155Ter | |
| XM_011512523.1:c.463C>T | XP_011510825.1:p.Gln155Ter | |
| XM_011512524.1:c.547C>T | XP_011510826.1:p.Gln183Ter | |
| XM_011512525.1:c.547C>T | XP_011510827.1:p.Gln183Ter | |
| XM_011512526.1:c.547C>T | XP_011510828.1:p.Gln183Ter | |
| XM_011512527.1:c.547C>T | XP_011510829.1:p.Gln183Ter | |
| XM_011512528.1:c.547C>T | XP_011510830.1:p.Gln183Ter | |
| XR_924109.1:n.612C>T | ||
| XR_924110.1:n.612C>T | ||
| XR_924111.1:n.612C>T | ||
| XR_924112.1:n.773C>T | ||
| XR_924113.1:n.613C>T | ||
| XM_005247198.3:c.547C>T | XP_005247255.1:p.Gln183Ter | |
| XM_006713527.3:c.463C>T | XP_006713590.1:p.Gln155Ter | |
| XM_011512518.2:c.547C>T | XP_011510820.1:p.Gln183Ter | |
| XM_011512520.3:c.463C>T | XP_011510822.1:p.Gln155Ter | |
| XM_011512521.2:c.463C>T | XP_011510823.1:p.Gln155Ter | |
| XM_011512524.2:c.547C>T | XP_011510826.1:p.Gln183Ter | |
| XM_011512528.3:c.547C>T | XP_011510830.1:p.Gln183Ter | |
| XM_017005841.1:c.547C>T | XP_016861330.1:p.Gln183Ter | |
| XM_017005842.1:c.547C>T | XP_016861331.1:p.Gln183Ter | |
| XR_001740045.1:n.1936C>T | ||
| XR_001740046.1:n.1936C>T | ||
| XR_001740047.1:n.1936C>T | ||
| XR_001740048.1:n.1936C>T | ||
| XR_924113.2:n.1936C>T | ||
| NM_173543.3:c.463C>T MANE Select | NP_775814.2:p.Gln155Ter |