Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666052C>G , CM000679.2:g.39666052C>G | GRCh38 |
| NC_000017.10:g.37822305C>G , CM000679.1:g.37822305C>G | GRCh37 |
| NC_000017.9:g.35075831C>G | NCBI36 |
| NG_008892.1:g.5707C>G , LRG_210:g.5707C>G | |
| NG_042278.1:g.3072C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.447C>G MANE Select | ENSP00000312624.2:p.Pro149= | |
| ENST00000309889.2:c.447C>G | ENSP00000312624.2:p.Pro149= | |
| ENST00000578283.1:c.375C>G | ENSP00000462787.1:p.Pro125= | |
| NM_003673.3:c.447C>G , LRG_210t1:c.447C>G | NP_003664.1:p.Pro149= | |
| NM_003673.4:c.447C>G MANE Select | NP_003664.1:p.Pro149= |