Linked Data
dbSNP Id:
rs782286432
ExAC:
8:145639783 A / G
gnomAD v2:
8-145639783-A-G
gnomAD v3:
8-144414399-A-G
gnomAD v4:
8-144414399-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414399A>G , CM000670.2:g.144414399A>G | GRCh38 |
| NC_000008.10:g.145639783A>G , CM000670.1:g.145639783A>G | GRCh37 |
| NC_000008.9:g.145610591A>G | NCBI36 |
| NG_012234.2:g.7492T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1012T>C MANE Select | ENSP00000301305.4:p.Cys338Arg | |
| ENST00000276833.9:c.937T>C | ENSP00000276833.5:p.Cys313Arg | |
| ENST00000301305.7:c.1012T>C | ENSP00000301305.3:p.Cys338Arg | |
| NM_017767.2:c.937T>C | NP_060237.2:p.Cys313Arg | |
| NM_130849.3:c.1012T>C | NP_570901.2:p.Cys338Arg | |
| XM_006716599.1:c.1012T>C | XP_006716662.1:p.Cys338Arg | |
| XM_011517153.1:c.730T>C | XP_011515455.1:p.Cys244Arg | |
| XM_024447188.1:c.730T>C | XP_024302956.1:p.Cys244Arg | |
| XM_024447189.1:c.730T>C | XP_024302957.1:p.Cys244Arg | |
| NM_001374839.1:c.730T>C | NP_001361768.1:p.Cys244Arg | |
| NM_017767.3:c.937T>C | NP_060237.3:p.Cys313Arg | |
| NM_130849.4:c.1012T>C MANE Select | NP_570901.3:p.Cys338Arg |