Linked Data
ClinVar Variation Id:
42121
ClinVar RCV Id:
RCV000034948
dbSNP Id:
rs386134130
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149185393G>T , CM000665.2:g.149185393G>T | GRCh38 |
| NC_000003.11:g.148903180G>T , CM000665.1:g.148903180G>T | GRCh37 |
| NC_000003.10:g.150385870G>T | NCBI36 |
| NG_011800.1:g.41653C>A | |
| NG_011800.2:g.41653C>A | |
| NG_011800.3:g.41653C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2131C>A MANE Select | ENSP00000264613.6:p.Gln711Lys | |
| ENST00000264613.10:c.2131C>A | ENSP00000264613.6:p.Gln711Lys | |
| ENST00000462336.5:n.463C>A | ||
| ENST00000481169.5:c.1918C>A | ENSP00000418773.1:p.Gln640Lys | |
| ENST00000490639.5:n.2163C>A | ||
| ENST00000494544.1:c.1480C>A | ENSP00000420545.1:p.Gln494Lys | |
| ENST00000497902.5:n.312C>A | ||
| NM_000096.3:c.2131C>A | NP_000087.1:p.Gln711Lys | |
| NR_046371.1:n.2171C>A | ||
| XM_006713499.2:c.2131C>A | XP_006713562.1:p.Gln711Lys | |
| XM_006713500.2:c.2131C>A | XP_006713563.1:p.Gln711Lys | |
| XM_006713501.2:c.2131C>A | XP_006713564.1:p.Gln711Lys | |
| XM_006713502.2:c.2131C>A | XP_006713565.1:p.Gln711Lys | |
| XM_011512435.1:c.2131C>A | XP_011510737.1:p.Gln711Lys | |
| XR_427361.2:n.2389C>A | ||
| XM_006713499.3:c.2131C>A | XP_006713562.1:p.Gln711Lys | |
| XM_006713500.4:c.2131C>A | XP_006713563.1:p.Gln711Lys | |
| XM_006713501.3:c.2131C>A | XP_006713564.1:p.Gln711Lys | |
| XM_011512435.2:c.2131C>A | XP_011510737.1:p.Gln711Lys | |
| XM_017005734.2:c.2131C>A | XP_016861223.1:p.Gln711Lys | |
| XM_017005735.2:c.2131C>A | XP_016861224.1:p.Gln711Lys | |
| XR_427361.3:n.2347C>A | ||
| NM_000096.4:c.2131C>A MANE Select | NP_000087.2:p.Gln711Lys | |
| NR_046371.2:n.1955C>A |