Linked Data
ClinVar Variation Id:
2832860
ClinVar RCV Id:
RCV003749962
dbSNP Id:
rs767587816
gnomAD v2:
9-139391826-G-C
gnomAD v4:
9-136497374-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497374G>C , CM000671.2:g.136497374G>C | GRCh38 |
| NC_000009.11:g.139391826G>C , CM000671.1:g.139391826G>C | GRCh37 |
| NC_000009.10:g.138511647G>C | NCBI36 |
| NG_007458.1:g.53413C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6365C>G MANE Select | ENSP00000498587.1:p.Pro2122Arg | |
| ENST00000679595.1:c.*1405C>G | ENSP00000506241.1:n.*1405C>G | |
| ENST00000679969.1:n.2961C>G | ||
| ENST00000680003.1:n.2697C>G | ||
| ENST00000680133.1:c.6251C>G | ENSP00000505319.1:p.Pro2084Arg | |
| ENST00000680218.1:c.6245C>G | ENSP00000505339.1:p.Pro2082Arg | |
| ENST00000680668.1:c.6251C>G | ENSP00000506336.1:p.Pro2084Arg | |
| ENST00000680778.1:c.3962C>G | ENSP00000506033.1:p.Pro1321Arg | |
| ENST00000680924.1:c.*3765C>G | ENSP00000506031.1:n.*3765C>G | |
| ENST00000681135.1:c.*3974C>G | ENSP00000506636.1:n.*3974C>G | |
| ENST00000681298.1:n.4470C>G | ||
| ENST00000681454.1:c.*5601C>G | ENSP00000505763.1:n.*5601C>G | |
| ENST00000277541.6:c.6365C>G | ENSP00000277541.6:p.Pro2122Arg | |
| NM_017617.3:c.6365C>G | NP_060087.3:p.Pro2122Arg | |
| XM_011518717.1:c.5666C>G | XP_011517019.1:p.Pro1889Arg | |
| NM_017617.5:c.6365C>G MANE Select | NP_060087.3:p.Pro2122Arg | |
| XM_011518717.2:c.5642C>G | XP_011517019.2:p.Pro1881Arg |