Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93585388G>C , CM000667.2:g.93585388G>C | GRCh38 |
| NC_000005.9:g.92921094G>C , CM000667.1:g.92921094G>C | GRCh37 |
| NC_000005.8:g.92946850G>C | NCBI36 |
| NG_034119.1:g.7052G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615873.2:c.290G>C | ENSP00000481517.1:p.Cys97Ser | |
| ENST00000327111.8:c.365G>C MANE Select | ENSP00000325819.3:p.Cys122Ser | |
| ENST00000647447.1:c.212G>C | ENSP00000495740.1:p.Cys71Ser | |
| ENST00000327111.7:c.365G>C | ENSP00000325819.3:p.Cys122Ser | |
| ENST00000615873.1:c.290G>C | ENSP00000481517.1:p.Cys97Ser | |
| NM_005654.5:c.365G>C | NP_005645.1:p.Cys122Ser | |
| NM_005654.6:c.365G>C MANE Select | NP_005645.1:p.Cys122Ser |