Linked Data
ClinVar Variation Id:
42122
ClinVar RCV Id:
RCV000034949
dbSNP Id:
rs386134155
gnomAD v2:
3-148927136-G-A
gnomAD v3:
3-149209349-G-A
gnomAD v4:
3-149209349-G-A
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149209349G>A , CM000665.2:g.149209349G>A | GRCh38 |
| NC_000003.11:g.148927136G>A , CM000665.1:g.148927136G>A | GRCh37 |
| NC_000003.10:g.150409826G>A | NCBI36 |
| NG_011800.1:g.17697C>T | |
| NG_011800.2:g.17697C>T | |
| NG_011800.3:g.17697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.643C>T MANE Select | ENSP00000264613.6:p.Arg215Ter | |
| ENST00000264613.10:c.643C>T | ENSP00000264613.6:p.Arg215Ter | |
| ENST00000481169.5:c.643C>T | ENSP00000418773.1:p.Arg215Ter | |
| ENST00000490639.5:n.675C>T | ||
| NM_000096.3:c.643C>T | NP_000087.1:p.Arg215Ter | |
| NR_046371.1:n.896C>T | ||
| XM_006713499.2:c.643C>T | XP_006713562.1:p.Arg215Ter | |
| XM_006713500.2:c.643C>T | XP_006713563.1:p.Arg215Ter | |
| XM_006713501.2:c.643C>T | XP_006713564.1:p.Arg215Ter | |
| XM_006713502.2:c.643C>T | XP_006713565.1:p.Arg215Ter | |
| XM_011512435.1:c.643C>T | XP_011510737.1:p.Arg215Ter | |
| XR_427361.2:n.901C>T | ||
| XM_006713499.3:c.643C>T | XP_006713562.1:p.Arg215Ter | |
| XM_006713500.4:c.643C>T | XP_006713563.1:p.Arg215Ter | |
| XM_006713501.3:c.643C>T | XP_006713564.1:p.Arg215Ter | |
| XM_011512435.2:c.643C>T | XP_011510737.1:p.Arg215Ter | |
| XM_017005734.2:c.643C>T | XP_016861223.1:p.Arg215Ter | |
| XM_017005735.2:c.643C>T | XP_016861224.1:p.Arg215Ter | |
| XR_427361.3:n.859C>T | ||
| NM_000096.4:c.643C>T MANE Select | NP_000087.2:p.Arg215Ter | |
| NR_046371.2:n.680C>T |