Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849607C>A , CM000681.2:g.35849607C>A | GRCh38 |
| NC_000019.9:g.36340509C>A , CM000681.1:g.36340509C>A | GRCh37 |
| NC_000019.8:g.41032349C>A | NCBI36 |
| NG_013356.2:g.24681G>T , LRG_693:g.24681G>T | |
| NG_051206.1:g.2973C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.655G>T MANE Select | ENSP00000368190.4:p.Ala219Ser | |
| ENST00000353632.6:c.655G>T | ENSP00000343634.5:p.Ala219Ser | |
| ENST00000378910.9:c.655G>T | ENSP00000368190.4:p.Ala219Ser | |
| NM_004646.3:c.655G>T , LRG_693t1:c.655G>T | NP_004637.1:p.Ala219Ser | |
| NM_004646.4:c.655G>T MANE Select | NP_004637.1:p.Ala219Ser |