Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849351G>T , CM000681.2:g.35849351G>T | GRCh38 |
| NC_000019.9:g.36340253G>T , CM000681.1:g.36340253G>T | GRCh37 |
| NC_000019.8:g.41032093G>T | NCBI36 |
| NG_013356.2:g.24937C>A , LRG_693:g.24937C>A | |
| NG_051206.1:g.2717G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.725C>A MANE Select | ENSP00000368190.4:p.Pro242His | |
| ENST00000353632.6:c.725C>A | ENSP00000343634.5:p.Pro242His | |
| ENST00000378910.9:c.725C>A | ENSP00000368190.4:p.Pro242His | |
| NM_004646.3:c.725C>A , LRG_693t1:c.725C>A | NP_004637.1:p.Pro242His | |
| NM_004646.4:c.725C>A MANE Select | NP_004637.1:p.Pro242His |