Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612571A>G , CM000679.2:g.41612571A>G | GRCh38 |
| NC_000017.10:g.39768823A>G , CM000679.1:g.39768823A>G | GRCh37 |
| NC_000017.9:g.37022349A>G | NCBI36 |
| NG_008301.1:g.5257T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.118T>C MANE Select | ENSP00000301653.3:p.Cys40Arg | |
| ENST00000301653.8:c.118T>C | ENSP00000301653.3:p.Cys40Arg | |
| ENST00000588319.1:n.195T>C | ||
| ENST00000590990.1:c.118T>C | ENSP00000467105.1:p.Cys40Arg | |
| ENST00000593067.1:c.-313+219T>C | ENSP00000467124.1:n.-313+219T>C | |
| NM_005557.3:c.118T>C | NP_005548.2:p.Cys40Arg | |
| NM_005557.4:c.118T>C MANE Select | NP_005548.2:p.Cys40Arg |