Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704153G>A , CM000678.2:g.30704153G>A | GRCh38 |
| NC_000016.9:g.30715474G>A , CM000678.1:g.30715474G>A | GRCh37 |
| NC_000016.8:g.30622975G>A | NCBI36 |
| NG_032135.1:g.10013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.144G>A | ENSP00000405186.3:p.Pro48= | |
| ENST00000706321.1:c.144G>A | ENSP00000516346.1:p.Pro48= | |
| ENST00000262518.9:c.144G>A MANE Select | ENSP00000262518.4:p.Pro48= | |
| ENST00000262518.8:c.144G>A | ENSP00000262518.4:p.Pro48= | |
| ENST00000380361.7:c.87G>A | ENSP00000369719.3:p.Pro29= | |
| ENST00000411466.6:c.144G>A | ENSP00000405186.2:p.Pro48= | |
| NM_006662.2:c.144G>A | NP_006653.2:p.Pro48= | |
| NM_006662.3:c.144G>A MANE Select | NP_006653.2:p.Pro48= |