Linked Data
ClinVar Variation Id:
2136762
ClinVar RCV Id:
RCV003037321
dbSNP Id:
rs111033824
gnomAD v2:
9-34650444-T-C
gnomAD v4:
9-34650447-T-C
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34650447T>C , CM000671.2:g.34650447T>C | GRCh38 |
| NC_000009.11:g.34650444T>C , CM000671.1:g.34650444T>C | GRCh37 |
| NC_000009.10:g.34640444T>C | NCBI36 |
| NG_009029.1:g.8810T>C | |
| NG_028966.1:g.3263T>C | |
| NG_009029.2:g.8859T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*726T>C | ENSP00000509954.1:n.*726T>C | |
| ENST00000378842.8:c.1138T>C MANE Select | ENSP00000368119.4:p.Ter380Arg | |
| ENST00000378842.7:c.1138T>C | ENSP00000368119.3:p.Ter380Arg | |
| ENST00000450095.6:c.811T>C | ENSP00000401956.2:p.Ter271Arg | |
| ENST00000488412.2:n.722T>C | ||
| ENST00000554550.5:c.*758T>C | ENSP00000451435.1:n.*758T>C | |
| ENST00000554638.5:n.1610T>C | ||
| ENST00000555754.1:n.586T>C | ||
| ENST00000556278.1:c.432+1991T>C | ENSP00000451792.1:n.432+1991T>C | |
| ENST00000557706.5:n.1713T>C | ||
| NM_000155.3:c.1138T>C | NP_000146.2:p.Ter380Arg | |
| NM_001258332.1:c.811T>C | NP_001245261.1:p.Ter271Arg | |
| NM_000155.4:c.1138T>C MANE Select | NP_000146.2:p.Ter380Arg | |
| NM_001258332.2:c.811T>C | NP_001245261.1:p.Ter271Arg |