Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272677G>C , CM000676.2:g.91272677G>C | GRCh38 |
| NC_000014.8:g.91739021G>C , CM000676.1:g.91739021G>C | GRCh37 |
| NC_000014.7:g.90808774G>C | NCBI36 |
| NG_033118.1:g.150168C>G | |
| NG_033118.2:g.150168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6035C>G MANE Select | ENSP00000374507.6:p.Pro2012Arg | |
| ENST00000331194.8:c.1469C>G | ENSP00000330332.8:p.Pro490Arg | |
| ENST00000389857.10:c.6035C>G | ENSP00000374507.6:p.Pro2012Arg | |
| ENST00000556726.5:c.2263C>G | ||
| NM_001080414.3:c.6035C>G | NP_001073883.2:p.Pro2012Arg | |
| XM_011536796.1:c.5927C>G | XP_011535098.1:p.Pro1976Arg | |
| XM_011536796.2:c.5927C>G | XP_011535098.1:p.Pro1976Arg | |
| XM_017021336.1:c.3116C>G | XP_016876825.1:p.Pro1039Arg | |
| NM_001080414.4:c.6035C>G MANE Select | NP_001073883.2:p.Pro2012Arg |