Linked Data
dbSNP Id:
rs776240936
ExAC:
5:155935630 G / C
gnomAD v2:
5-155935630-G-C
gnomAD v3:
5-156508620-G-C
gnomAD v4:
5-156508620-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156508620G>C , CM000667.2:g.156508620G>C | GRCh38 |
| NC_000005.9:g.155935630G>C , CM000667.1:g.155935630G>C | GRCh37 |
| NC_000005.8:g.155868208G>C | NCBI36 |
| NG_008693.2:g.643277G>C , LRG_205:g.643277G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.212G>C MANE Select | ENSP00000338343.4:p.Arg71Thr | |
| ENST00000337851.8:c.212G>C | ENSP00000338343.4:p.Arg71Thr | |
| ENST00000435422.7:c.209G>C | ENSP00000403003.2:p.Arg70Thr | |
| ENST00000517913.5:c.212G>C | ENSP00000429378.1:p.Arg71Thr | |
| ENST00000524347.2:c.*76G>C | ENSP00000430794.1:n.*76G>C | |
| NM_000337.5:c.212G>C , LRG_205t1:c.212G>C | NP_000328.2:p.Arg71Thr | |
| NM_001128209.1:c.209G>C | NP_001121681.1:p.Arg70Thr | |
| NM_172244.2:c.212G>C | NP_758447.1:p.Arg71Thr | |
| XM_005265966.3:c.212G>C | XP_005266023.1:p.Arg71Thr | |
| XM_005265967.1:c.212G>C | XP_005266024.1:p.Arg71Thr | |
| XM_006714911.2:c.212G>C | XP_006714974.1:p.Arg71Thr | |
| XM_011534621.1:c.209G>C | XP_011532923.1:p.Arg70Thr | |
| XM_005265966.5:c.212G>C | XP_005266023.1:p.Arg71Thr | |
| XM_005265967.2:c.212G>C | XP_005266024.1:p.Arg71Thr | |
| XM_011534621.2:c.209G>C | XP_011532923.1:p.Arg70Thr | |
| XM_017009723.2:c.212G>C | XP_016865212.1:p.Arg71Thr | |
| XM_017009724.1:c.212G>C | XP_016865213.1:p.Arg71Thr | |
| NM_001128209.2:c.209G>C | NP_001121681.1:p.Arg70Thr | |
| NM_172244.3:c.212G>C | NP_758447.1:p.Arg71Thr | |
| NM_000337.6:c.212G>C MANE Select | NP_000328.2:p.Arg71Thr |