Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17413279C>G , CM000670.2:g.17413279C>G | GRCh38 |
| NC_000008.10:g.17270788C>G , CM000670.1:g.17270788C>G | GRCh37 |
| NC_000008.9:g.17315159C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004686.5:c.14G>C MANE Select | NP_004677.3:p.Arg5Pro |
| ENST00000180173.10:c.14G>C MANE Select | ENSP00000180173.4:p.Arg5Pro |
| NM_004686.4:c.14G>C | NP_004677.3:p.Arg5Pro |
| ENST00000180173.9:c.14G>C | ENSP00000180173.4:p.Arg5Pro |
| ENST00000517317.5:c.14G>C | ENSP00000431000.1:p.Arg5Pro |
| ENST00000521177.1:n.250G>C | |
| ENST00000521857.5:c.14G>C | ENSP00000429733.1:p.Arg5Pro |
| XM_017013956.2:c.-718G>C | XP_016869445.1:n.-718G>C |
| XM_024447325.1:c.-796G>C | XP_024303093.1:n.-796G>C |