Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232524355G>C , CM000664.2:g.232524355G>C | GRCh38 |
| NC_000002.11:g.233389065G>C , CM000664.1:g.233389065G>C | GRCh37 |
| NC_000002.10:g.233097309G>C | NCBI36 |
| NG_008028.1:g.3144G>C | |
| NG_031969.1:g.8893G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1400G>C MANE Select | ENSP00000479745.1:p.Arg467Pro | |
| ENST00000449534.6:c.1403G>C | ENSP00000473410.1:p.Arg468Pro | |
| ENST00000617714.1:c.1400G>C | ENSP00000479745.1:p.Arg467Pro | |
| NM_001195129.1:c.1400G>C | NP_001182058.1:p.Arg467Pro | |
| NM_001195129.2:c.1400G>C MANE Select | NP_001182058.1:p.Arg467Pro | |
| NM_001369848.1:c.1403G>C | NP_001356777.1:p.Arg468Pro |