Linked Data
ClinVar Variation Id:
204939
ClinVar RCV Id:
RCV000186843
RCV000271279
RCV000384411
RCV000471900
RCV000515246
RCV002054189
RCV004537572
dbSNP Id:
rs200662010
ExAC:
2:152955482 G / C
gnomAD v2:
2-152955482-G-C
gnomAD v3:
2-152098968-G-C
gnomAD v4:
2-152098968-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152098968G>C , CM000664.2:g.152098968G>C | GRCh38 |
| NC_000002.11:g.152955482G>C , CM000664.1:g.152955482G>C | GRCh37 |
| NC_000002.10:g.152663728G>C | NCBI36 |
| NG_012641.1:g.5112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201943.10:c.44C>G | ENSP00000201943.5:p.Pro15Arg | |
| ENST00000427385.6:c.44C>G | ENSP00000410978.2:p.Pro15Arg | |
| ENST00000470066.2:n.173C>G | ||
| ENST00000539935.7:c.44C>G MANE Select | ENSP00000438949.1:p.Pro15Arg | |
| ENST00000637309.1:c.44C>G | ENSP00000490127.1:p.Pro15Arg | |
| ENST00000201943.9:c.44C>G | ENSP00000201943.5:p.Pro15Arg | |
| ENST00000539935.5:c.44C>G | ENSP00000438949.1:p.Pro15Arg | |
| NM_000726.3:c.44C>G | NP_000717.2:p.Pro15Arg | |
| NM_001145798.1:c.44C>G | NP_001139270.1:p.Pro15Arg | |
| XM_011511797.1:c.44C>G | XP_011510099.1:p.Pro15Arg | |
| XM_011511798.1:c.44C>G | XP_011510100.1:p.Pro15Arg | |
| XM_011511799.1:c.44C>G | XP_011510101.1:p.Pro15Arg | |
| XR_923022.1:n.1021C>G | ||
| XR_923023.1:n.1021C>G | ||
| NM_000726.4:c.44C>G | NP_000717.2:p.Pro15Arg | |
| NM_001145798.2:c.44C>G | NP_001139270.1:p.Pro15Arg | |
| XM_011511797.3:c.44C>G | XP_011510099.1:p.Pro15Arg | |
| XR_002959337.1:n.197C>G | ||
| XR_923022.3:n.197C>G | ||
| NM_000726.5:c.44C>G MANE Select | NP_000717.2:p.Pro15Arg |