Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028741A>G , CM000666.2:g.52028741A>G | GRCh38 |
| NC_000004.11:g.52894907A>G , CM000666.1:g.52894907A>G | GRCh37 |
| NC_000004.10:g.52589664A>G | NCBI36 |
| NG_008891.1:g.14579T>C , LRG_204:g.14579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.610T>C MANE Select | ENSP00000370839.6:p.Ser204Pro | |
| ENST00000381431.9:c.610T>C | ENSP00000370839.5:p.Ser204Pro | |
| NM_000232.4:c.610T>C , LRG_204t1:c.610T>C | NP_000223.1:p.Ser204Pro | |
| XM_006714049.2:c.313T>C | XP_006714112.1:p.Ser105Pro | |
| XM_011534403.1:c.400T>C | XP_011532705.1:p.Ser134Pro | |
| XM_011534404.1:c.313T>C | XP_011532706.1:p.Ser105Pro | |
| NM_000232.5:c.610T>C MANE Select | NP_000223.1:p.Ser204Pro |