Linked Data
ClinVar Variation Id:
161995
ClinVar RCV Id:
RCV000149420
dbSNP Id:
rs672601311
gnomAD v2:
15-50782647-C-G
gnomAD v4:
15-50490450-C-G
COSMIC:
COSM1749198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50490450C>G , CM000677.2:g.50490450C>G | GRCh38 |
| NC_000015.9:g.50782647C>G , CM000677.1:g.50782647C>G | GRCh37 |
| NC_000015.8:g.48569939C>G | NCBI36 |
| NG_047101.1:g.71074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307179.9:c.2159C>G MANE Select | ENSP00000302239.4:p.Pro720Arg | |
| ENST00000307179.8:c.2159C>G | ENSP00000302239.4:p.Pro720Arg | |
| ENST00000396444.7:c.2159C>G | ENSP00000379721.3:p.Pro720Arg | |
| ENST00000425032.7:c.1841C>G | ENSP00000412682.3:p.Pro614Arg | |
| NM_001128610.2:c.2159C>G | NP_001122082.1:p.Pro720Arg | |
| NM_001283049.1:c.1841C>G | NP_001269978.1:p.Pro614Arg | |
| NM_005154.4:c.2159C>G | NP_005145.3:p.Pro720Arg | |
| XM_006720761.2:c.2159C>G | XP_006720824.1:p.Pro720Arg | |
| XM_006720762.2:c.2072C>G | XP_006720825.1:p.Pro691Arg | |
| XM_011522193.1:c.2159C>G | XP_011520495.1:p.Pro720Arg | |
| XM_011522194.1:c.1487C>G | XP_011520496.1:p.Pro496Arg | |
| XM_006720761.3:c.2159C>G | XP_006720824.1:p.Pro720Arg | |
| XM_006720762.3:c.2072C>G | XP_006720825.1:p.Pro691Arg | |
| XM_011522193.3:c.2159C>G | XP_011520495.1:p.Pro720Arg | |
| XM_017022718.1:c.2072C>G | XP_016878207.1:p.Pro691Arg | |
| XM_017022719.2:c.2072C>G | XP_016878208.1:p.Pro691Arg | |
| XM_017022720.2:c.2072C>G | XP_016878209.1:p.Pro691Arg | |
| XM_017022721.2:c.1589C>G | XP_016878210.1:p.Pro530Arg | |
| XM_017022722.1:c.1589C>G | XP_016878211.1:p.Pro530Arg | |
| XM_024450098.1:c.1589C>G | XP_024305866.1:p.Pro530Arg | |
| NM_005154.5:c.2159C>G MANE Select | NP_005145.3:p.Pro720Arg | |
| NM_001128610.3:c.2159C>G | NP_001122082.1:p.Pro720Arg | |
| NM_001283049.2:c.1841C>G | NP_001269978.1:p.Pro614Arg |