Linked Data
ClinVar Variation Id:
2735270
ClinVar RCV Id:
RCV003504547
dbSNP Id:
rs111033740
gnomAD v4:
9-34648380-G-C
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648380G>C , CM000671.2:g.34648380G>C | GRCh38 |
| NC_000009.11:g.34648377G>C , CM000671.1:g.34648377G>C | GRCh37 |
| NC_000009.10:g.34638377G>C | NCBI36 |
| NG_009029.1:g.6743G>C | |
| NG_028966.1:g.1196G>C | |
| NG_009029.2:g.6792G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*199G>C | ENSP00000509954.1:n.*199G>C | |
| ENST00000378842.8:c.611G>C MANE Select | ENSP00000368119.4:p.Arg204Pro | |
| ENST00000378842.7:c.611G>C | ENSP00000368119.3:p.Arg204Pro | |
| ENST00000450095.6:c.284G>C | ENSP00000401956.2:p.Arg95Pro | |
| ENST00000472111.5:n.867G>C | ||
| ENST00000473506.6:c.*199G>C | ENSP00000432839.2:n.*199G>C | |
| ENST00000473529.5:n.770G>C | ||
| ENST00000487381.5:n.996G>C | ||
| ENST00000489643.6:n.386G>C | ||
| ENST00000554085.5:c.*355G>C | ENSP00000450419.1:n.*355G>C | |
| ENST00000554139.5:n.857G>C | ||
| ENST00000554550.5:c.*231G>C | ENSP00000451435.1:n.*231G>C | |
| ENST00000554638.5:n.1083G>C | ||
| ENST00000554944.5:n.960G>C | ||
| ENST00000555020.5:n.767G>C | ||
| ENST00000555086.5:n.615G>C | ||
| ENST00000555214.5:n.432G>C | ||
| ENST00000556244.1:c.598G>C | ||
| ENST00000556278.1:c.356G>C | ENSP00000451792.1:p.Arg119Pro | |
| ENST00000556494.5:n.732G>C | ||
| ENST00000557706.5:n.1173G>C | ||
| NM_000155.3:c.611G>C | NP_000146.2:p.Arg204Pro | |
| NM_001258332.1:c.284G>C | NP_001245261.1:p.Arg95Pro | |
| NM_000155.4:c.611G>C MANE Select | NP_000146.2:p.Arg204Pro | |
| NM_001258332.2:c.284G>C | NP_001245261.1:p.Arg95Pro |