Linked Data
ClinVar Variation Id:
2618213
ClinVar RCV Id:
RCV003374602
dbSNP Id:
rs924300699
gnomAD v3:
2-25161367-G-C
gnomAD v4:
2-25161367-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161367G>C , CM000664.2:g.25161367G>C | GRCh38 |
| NC_000002.11:g.25384236G>C , CM000664.1:g.25384236G>C | GRCh37 |
| NC_000002.10:g.25237740G>C | NCBI36 |
| NG_008997.1:g.12324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395826.7:c.518C>G MANE Select | ENSP00000379170.2:p.Pro173Arg | |
| ENST00000264708.7:c.518C>G | ENSP00000264708.3:p.Pro173Arg | |
| ENST00000380794.5:c.518C>G | ENSP00000370171.1:p.Pro173Arg | |
| ENST00000395826.6:c.518C>G | ENSP00000379170.2:p.Pro173Arg | |
| ENST00000405623.5:c.518C>G | ENSP00000384092.1:p.Pro173Arg | |
| ENST00000449220.1:c.518C>G | ENSP00000387993.1:p.Pro173Arg | |
| NM_000939.2:c.518C>G | NP_000930.1:p.Pro173Arg | |
| NM_001035256.1:c.518C>G | NP_001030333.1:p.Pro173Arg | |
| XM_011532917.1:c.518C>G | XP_011531219.1:p.Pro173Arg | |
| NM_000939.3:c.518C>G | NP_000930.1:p.Pro173Arg | |
| NM_001035256.2:c.518C>G | NP_001030333.1:p.Pro173Arg | |
| NM_001319204.1:c.518C>G | NP_001306133.1:p.Pro173Arg | |
| NM_001319205.1:c.518C>G | NP_001306134.1:p.Pro173Arg | |
| NM_000939.4:c.518C>G MANE Select | NP_000930.1:p.Pro173Arg | |
| NM_001319204.2:c.518C>G | NP_001306133.1:p.Pro173Arg | |
| NM_001319205.2:c.518C>G | NP_001306134.1:p.Pro173Arg | |
| NM_001035256.3:c.518C>G | NP_001030333.1:p.Pro173Arg |