Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158767438T>G , CM000668.2:g.158767438T>G | GRCh38 |
| NC_000006.11:g.159188470T>G , CM000668.1:g.159188470T>G | GRCh37 |
| NC_000006.10:g.159108458T>G | NCBI36 |
| NG_052952.1:g.56987A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001111077.2:c.1419A>C MANE Select | NP_001104547.1:p.Pro473= |
| ENST00000367075.4:c.1419A>C MANE Select | ENSP00000356042.3:p.Pro473= |
| NM_001111077.1:c.1419A>C | NP_001104547.1:p.Pro473= |
| NM_003379.4:c.1419A>C | NP_003370.2:p.Pro473= |
| NM_003379.5:c.1419A>C | NP_003370.2:p.Pro473= |
| ENST00000337147.11:c.1419A>C | ENSP00000338934.7:p.Pro473= |
| ENST00000367075.3:c.1419A>C | ENSP00000356042.3:p.Pro473= |
| ENST00000392177.8:c.1419A>C | ENSP00000376016.5:p.Pro473= |
| XM_011536110.1:c.1011A>C | XP_011534412.1:p.Pro337= |