Linked Data
ClinVar Variation Id:
36422
dbSNP Id:
rs55778349
ExAC:
19:17953950 G / C
gnomAD v2:
19-17953950-G-C
gnomAD v3:
19-17843141-G-C
gnomAD v4:
19-17843141-G-C
COSMIC:
COSM35867
ERepo:
CA160252/MONDO:0010938/121
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843141G>C , CM000681.2:g.17843141G>C | GRCh38 |
| NC_000019.9:g.17953950G>C , CM000681.1:g.17953950G>C | GRCh37 |
| NC_000019.8:g.17814950G>C | NCBI36 |
| NG_007273.1:g.9851C>G , LRG_77:g.9851C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.452C>G | ENSP00000513006.1:p.Pro151Arg | |
| ENST00000458235.7:c.452C>G MANE Select | ENSP00000391676.1:p.Pro151Arg | |
| ENST00000458235.5:c.452C>G | ENSP00000391676.1:p.Pro151Arg | |
| ENST00000526008.5:n.552C>G | ||
| ENST00000527031.5:n.542C>G | ||
| ENST00000527670.5:c.452C>G | ENSP00000432511.1:p.Pro151Arg | |
| ENST00000528293.1:n.467C>G | ||
| ENST00000534444.1:c.452C>G | ENSP00000436421.1:p.Pro151Arg | |
| NM_000215.3:c.452C>G , LRG_77t1:c.452C>G | NP_000206.2:p.Pro151Arg | |
| XM_005259896.2:c.581C>G | XP_005259953.1:p.Pro194Arg | |
| XM_006722745.2:c.452C>G | XP_006722808.1:p.Pro151Arg | |
| XM_011527990.1:c.581C>G | XP_011526292.1:p.Pro194Arg | |
| XM_011527991.1:c.581C>G | XP_011526293.1:p.Pro194Arg | |
| XR_430137.2:n.591C>G | ||
| XM_005259896.3:c.581C>G | XP_005259953.1:p.Pro194Arg | |
| XM_011527991.2:c.581C>G | XP_011526293.1:p.Pro194Arg | |
| NM_000215.4:c.452C>G MANE Select | NP_000206.2:p.Pro151Arg |