Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107912717A>G , CM000668.2:g.107912717A>G | GRCh38 |
| NC_000006.11:g.108233921A>G , CM000668.1:g.108233921A>G | GRCh37 |
| NC_000006.10:g.108340614A>G | NCBI36 |
| NG_008270.1:g.50562T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007214.5:c.572T>C MANE Select | NP_009145.1:p.Leu191Pro |
| ENST00000369002.9:c.572T>C MANE Select | ENSP00000357998.4:p.Leu191Pro |
| NM_007214.4:c.572T>C | NP_009145.1:p.Leu191Pro |
| ENST00000369002.8:c.572T>C | ENSP00000357998.4:p.Leu191Pro |
| ENST00000429168.1:c.404T>C | ENSP00000403144.1:p.Leu135Pro |
| ENST00000484803.5:n.494T>C | |
| XM_011535399.1:c.404T>C | XP_011533701.1:p.Leu135Pro |
| XM_017010218.2:c.-523T>C | XP_016865707.1:n.-523T>C |