Linked Data
ClinVar Variation Id:
2782760
ClinVar RCV Id:
RCV003619947
dbSNP Id:
rs782199122
ExAC:
1:147380345 C / G
gnomAD v2:
1-147380345-C-G
gnomAD v4:
1-147908218-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908218C>G , CM000663.2:g.147908218C>G | GRCh38 |
| NC_000001.10:g.147380345C>G , CM000663.1:g.147380345C>G | GRCh37 |
| NC_000001.9:g.145846969C>G | NCBI36 |
| NG_016242.1:g.10400C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.263C>G MANE Select | ENSP00000358238.1:p.Pro88Arg | |
| ENST00000369235.1:c.263C>G | ENSP00000358238.1:p.Pro88Arg | |
| NM_005267.4:c.263C>G | NP_005258.2:p.Pro88Arg | |
| XM_011509416.1:c.263C>G | XP_011507718.1:p.Pro88Arg | |
| XM_011509417.1:c.263C>G | XP_011507719.1:p.Pro88Arg | |
| XM_011509417.2:c.263C>G | XP_011507719.1:p.Pro88Arg | |
| XR_002956281.1:n.1178C>G | ||
| NM_005267.5:c.263C>G MANE Select | NP_005258.2:p.Pro88Arg |