Linked Data
dbSNP Id:
rs772172286
ExAC:
10:105921780 C / G
gnomAD v2:
10-105921780-C-G
gnomAD v4:
10-104162022-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104162022C>G , CM000672.2:g.104162022C>G | GRCh38 |
| NC_000010.10:g.105921780C>G , CM000672.1:g.105921780C>G | GRCh37 |
| NC_000010.9:g.105911770C>G | NCBI36 |
| NG_051581.1:g.75356G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3353G>C MANE Select | ENSP00000349568.3:p.Arg1118Pro | |
| ENST00000357060.7:c.3353G>C | ENSP00000349568.3:p.Arg1118Pro | |
| ENST00000434629.5:c.1435G>C | ||
| NM_025145.5:c.3353G>C | NP_079421.5:p.Arg1118Pro | |
| XM_005270171.1:c.3356G>C | XP_005270228.1:p.Arg1119Pro | |
| XM_005270172.2:c.3356G>C | XP_005270229.1:p.Arg1119Pro | |
| XM_011540196.1:c.3470G>C | XP_011538498.1:p.Arg1157Pro | |
| XM_011540197.1:c.3470G>C | XP_011538499.1:p.Arg1157Pro | |
| XM_011540198.1:c.3353G>C | XP_011538500.1:p.Arg1118Pro | |
| XM_011540199.1:c.3353G>C | XP_011538501.1:p.Arg1118Pro | |
| XM_011540200.1:c.3470G>C | XP_011538502.1:p.Arg1157Pro | |
| XM_011540201.1:c.3470G>C | XP_011538503.1:p.Arg1157Pro | |
| XM_011540202.1:c.2699G>C | XP_011538504.1:p.Arg900Pro | |
| XM_011540203.1:c.1253G>C | XP_011538505.1:p.Arg418Pro | |
| NM_025145.6:c.3353G>C | NP_079421.5:p.Arg1118Pro | |
| XM_005270171.2:c.3356G>C | XP_005270228.1:p.Arg1119Pro | |
| XM_005270172.3:c.3356G>C | XP_005270229.1:p.Arg1119Pro | |
| XM_011540196.2:c.3470G>C | XP_011538498.1:p.Arg1157Pro | |
| XM_011540197.2:c.3470G>C | XP_011538499.1:p.Arg1157Pro | |
| XM_011540198.2:c.3353G>C | XP_011538500.1:p.Arg1118Pro | |
| XM_011540199.2:c.3353G>C | XP_011538501.1:p.Arg1118Pro | |
| XM_011540200.2:c.3470G>C | XP_011538502.1:p.Arg1157Pro | |
| XM_011540201.2:c.3470G>C | XP_011538503.1:p.Arg1157Pro | |
| XM_011540202.2:c.2699G>C | XP_011538504.1:p.Arg900Pro | |
| XM_017016681.1:c.3467G>C | XP_016872170.1:p.Arg1156Pro | |
| XM_017016682.1:c.3122G>C | XP_016872171.1:p.Arg1041Pro | |
| XM_024448177.1:c.1856G>C | XP_024303945.1:p.Arg619Pro | |
| XM_024448178.1:c.1253G>C | XP_024303946.1:p.Arg418Pro | |
| XR_002957015.1:n.3239G>C | ||
| NM_025145.7:c.3353G>C MANE Select | NP_079421.5:p.Arg1118Pro |