Linked Data
dbSNP Id:
rs763311061
gnomAD v2:
1-227171528-G-C
gnomAD v3:
1-226983827-G-C
gnomAD v4:
1-226983827-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226983827G>C , CM000663.2:g.226983827G>C | GRCh38 |
| NC_000001.10:g.227171528G>C , CM000663.1:g.227171528G>C | GRCh37 |
| NC_000001.9:g.225238151G>C | NCBI36 |
| NG_012825.1:g.48591G>C | |
| NG_012825.2:g.91292G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1229G>C MANE Select | ENSP00000355739.3:p.Arg410Pro | |
| ENST00000366779.6:c.*5956G>C | ENSP00000355741.2:n.*5956G>C | |
| ENST00000676884.1:c.*6078G>C | ENSP00000503200.1:n.*6078G>C | |
| ENST00000366777.3:c.1229G>C | ENSP00000355739.3:p.Arg410Pro | |
| ENST00000366778.5:c.1073G>C | ENSP00000355740.1:p.Arg358Pro | |
| ENST00000366779.5:c.1229G>C | ENSP00000355741.1:p.Arg410Pro | |
| ENST00000478406.5:n.1852G>C | ||
| ENST00000479852.1:n.177G>C | ||
| ENST00000485462.5:n.619G>C | ||
| NM_020247.4:c.1229G>C | NP_064632.2:p.Arg410Pro | |
| XM_005273201.1:c.1229G>C | XP_005273258.1:p.Arg410Pro | |
| XM_011544238.1:c.1229G>C | XP_011542540.1:p.Arg410Pro | |
| XM_011544239.1:c.1229G>C | XP_011542541.1:p.Arg410Pro | |
| XM_011544240.1:c.1229G>C | XP_011542542.1:p.Arg410Pro | |
| XM_011544241.1:c.1229G>C | XP_011542543.1:p.Arg410Pro | |
| XM_011544239.2:c.1229G>C | XP_011542541.1:p.Arg410Pro | |
| XM_011544241.2:c.1229G>C | XP_011542543.1:p.Arg410Pro | |
| XM_017001852.1:c.1229G>C | XP_016857341.1:p.Arg410Pro | |
| XM_024448517.1:c.1229G>C | XP_024304285.1:p.Arg410Pro | |
| XM_024448518.1:c.1229G>C | XP_024304286.1:p.Arg410Pro | |
| NM_020247.5:c.1229G>C MANE Select | NP_064632.2:p.Arg410Pro |