Linked Data
dbSNP Id:
rs779145295
ExAC:
21:46313345 A / G
gnomAD v2:
21-46313345-A-G
gnomAD v4:
21-44893430-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44893430A>G , CM000683.2:g.44893430A>G | GRCh38 |
| NC_000021.8:g.46313345A>G , CM000683.1:g.46313345A>G | GRCh37 |
| NC_000021.7:g.45137773A>G | NCBI36 |
| NG_007270.2:g.40409T>C , LRG_76:g.40409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.1270T>C | ENSP00000303242.6:p.Cys424Arg | |
| ENST00000652462.1:c.1198T>C MANE Select | ENSP00000498780.1:p.Cys400Arg | |
| ENST00000302347.9:c.1198T>C | ENSP00000303242.5:p.Cys400Arg | |
| ENST00000355153.8:c.1198T>C | ENSP00000347279.4:p.Cys400Arg | |
| ENST00000397850.6:c.1198T>C | ENSP00000380948.2:p.Cys400Arg | |
| ENST00000397852.5:c.1198T>C | ENSP00000380950.1:p.Cys400Arg | |
| ENST00000397854.7:c.1027T>C | ENSP00000380952.3:p.Cys343Arg | |
| ENST00000397857.5:c.1198T>C | ENSP00000380955.1:p.Cys400Arg | |
| ENST00000475170.5:n.598T>C | ||
| ENST00000498666.5:n.2767T>C | ||
| ENST00000523323.5:c.*1025T>C | ENSP00000427732.1:n.*1025T>C | |
| ENST00000610622.4:c.1027T>C | ENSP00000480700.1:p.Cys343Arg | |
| NM_000211.4:c.1198T>C | NP_000202.3:p.Cys400Arg | |
| NM_001127491.2:c.1198T>C | NP_001120963.2:p.Cys400Arg | |
| NM_001303238.1:c.991T>C | NP_001290167.1:p.Cys331Arg | |
| XM_006724001.1:c.991T>C | XP_006724064.1:p.Cys331Arg | |
| XM_006724001.2:c.991T>C | XP_006724064.1:p.Cys331Arg | |
| NM_000211.5:c.1198T>C MANE Select | NP_000202.3:p.Cys400Arg | |
| NM_001127491.3:c.1198T>C | NP_001120963.2:p.Cys400Arg | |
| NM_001303238.2:c.991T>C | NP_001290167.1:p.Cys331Arg |