Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.918611G>C , CM000681.2:g.918611G>C | GRCh38 |
| NC_000019.9:g.918611G>C , CM000681.1:g.918611G>C | GRCh37 |
| NC_000019.8:g.869611G>C | NCBI36 |
| NG_008277.1:g.6270G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234371.10:c.312G>C MANE Select | ENSP00000234371.3:p.Pro104= | |
| ENST00000234371.9:c.312G>C | ENSP00000234371.3:p.Pro104= | |
| ENST00000592648.1:c.244+865G>C | ENSP00000467666.1:n.244+865G>C | |
| ENST00000606939.2:c.312G>C | ENSP00000475639.1:p.Pro104= | |
| NM_032551.4:c.312G>C | NP_115940.2:p.Pro104= | |
| XM_017027382.1:c.312G>C | XP_016882871.1:p.Pro104= | |
| NM_032551.5:c.312G>C MANE Select | NP_115940.2:p.Pro104= |