Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29225553G>A , CM000664.2:g.29225553G>A | GRCh38 |
| NC_000002.11:g.29448419G>A , CM000664.1:g.29448419G>A | GRCh37 |
| NC_000002.10:g.29301923G>A | NCBI36 |
| NG_009445.1:g.701014C>T , LRG_488:g.701014C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.3080C>T MANE Select | NP_004295.2:p.Pro1027Leu |
| ENST00000389048.8:c.3080C>T MANE Select | ENSP00000373700.3:p.Pro1027Leu |
| NM_004304.4:c.3080C>T | NP_004295.2:p.Pro1027Leu |
| ENST00000389048.7:c.3080C>T | ENSP00000373700.3:p.Pro1027Leu |
| ENST00000431873.6:c.246C>T | |
| ENST00000618119.4:c.1949C>T | ENSP00000482733.1:p.Pro650Leu |
| XM_024452778.1:c.233C>T | XP_024308546.1:p.Pro78Leu |
| XR_001738688.2:n.3936C>T |